A total 76 pathogenic variants reported in gene solute carrier family 25 member 38 (SLC25A38)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) SNV
Germline		 Chr3:39391513 Pathogenic Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114771 rs_121918330

4 SubmittersRCV000001177RCV000760470
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) SNV
Germline		 Chr3:39391956 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA114773 rs_121918331

4 SubmittersRCV000001179RCV002512636
NM_017875.4(SLC25A38):c.277-1G>A SNV
Germline		 Chr3:39391440 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352454 rs_869312029

2 SubmittersRCV000001180
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) SNV
Germline		 Chr3:39394574 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA114774 rs_121918332

2 SubmittersRCV000001181
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) SNV
Germline		 Chr3:39390470 Conflicting classifications of pathogenicity Sideroblastic anemia 2
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2327393 rs_144149294

6 SubmittersRCV000330775RCV000425850RCV000968454RCV002523257
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) SNV
Germline		 Chr3:39383736 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327308 rs_142420345

4 SubmittersRCV000302431RCV001718735
NM_017875.4(SLC25A38):c.*431G>A SNV
Germline		 Chr3:39396951 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10618456 rs_73058292

2 SubmittersRCV000285639RCV001786375
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) SNV
Germline		 Chr3:39391452 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327421 rs_765578993

2 SubmittersRCV000290838RCV001861217
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) SNV
Germline		 Chr3:39391858 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327474 rs_369980078

3 SubmittersRCV000302332RCV001718736
NM_017875.4(SLC25A38):c.166C>T (p.Gln56Ter) SNV
Germline		 Chr3:39389591 Pathogenic Condition: not provided
Sideroblastic anemia 2		 Criteria Provided
Single Submitter
 CA16042496 rs_866266558

2 SubmittersRCV000413840RCV005431651
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) SNV
Germline		 Chr3:39391921 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327491 rs_149992222

4 SubmittersRCV001146840RCV001720124
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) SNV
Germline		 Chr3:39391882 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sideroblastic anemia 2
SLC25A38-related disorder		 Criteria Provided
Conflicting Classifications
 CA2327480 rs_531290475

5 SubmittersRCV000604002RCV000923430RCV001144865RCV004543412
NM_017875.4(SLC25A38):c.70-2A>C SNV
Germline		 Chr3:39389493 Pathogenic Sideroblastic anemia 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA352198515 rs_1233124208

2 SubmittersRCV000680098
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) SNV
Germline		 Chr3:39391564 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352201196 rs_1293528130

1 SubmittersRCV000778697
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) SNV
Germline		 Chr3:39392021 Pathogenic/Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA2327506 rs_146864395

2 SubmittersRCV000778698
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) SNV
Germline		 Chr3:39383735 Conflicting classifications of pathogenicity Condition: not provided
Sideroblastic anemia 2		 Criteria Provided
Conflicting Classifications
 CA2327307 rs_61995897

4 SubmittersRCV000958527RCV001150972
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) SNV
Germline		 Chr3:39394564 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327544 rs_763845960

2 SubmittersRCV001146844RCV003769703
NM_017875.4(SLC25A38):c.456+10A>G SNV
Germline		 Chr3:39391630 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327453 rs_368989667

2 SubmittersRCV001144864RCV002559398
NM_017875.4(SLC25A38):c.626-5T>C SNV
Germline		 Chr3:39394405 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327523 rs_767154505

2 SubmittersRCV001146843RCV003727912
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) SNV
Germline		 Chr3:39389591 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352199018 rs_866266558

1 SubmittersRCV001526380
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) SNV
Germline		 Chr3:39389600 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352199083 rs_2125577893

1 SubmittersRCV001526363
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) SNV
Germline		 Chr3:39390491 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352199805 rs_2125578710

1 SubmittersRCV001526373
NM_017875.4(SLC25A38):c.276+1G>A SNV
Germline		 Chr3:39390508 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352199986 rs_2125578753

1 SubmittersRCV001526348
NM_017875.4(SLC25A38):c.276+1G>T SNV
Germline		 Chr3:39390508 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352199989 rs_2125578753

1 SubmittersRCV001526378
NM_017875.4(SLC25A38):c.277-2A>C SNV
Germline		 Chr3:39391439 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352200164 rs_1198314410

1 SubmittersRCV001526349
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) SNV
Germline		 Chr3:39391445 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352200215 rs_762067787

1 SubmittersRCV001526370
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) SNV
Germline		 Chr3:39391469 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352200377 rs_2125579714

1 SubmittersRCV001526357
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) SNV
Germline		 Chr3:39391552 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352201065 rs_2125579946

1 SubmittersRCV001526351
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) SNV
Germline		 Chr3:39391553 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA73039078 rs_762562272

1 SubmittersRCV001526366
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) SNV
Germline		 Chr3:39391565 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352201218 rs_2041767822

1 SubmittersRCV001526362
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) SNV
Germline		 Chr3:39391604 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352201510 rs_2041768572

1 SubmittersRCV001526381
NM_017875.4(SLC25A38):c.457-1G>T SNV
Germline		 Chr3:39391852 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352202837 rs_1448237170

1 SubmittersRCV001526352
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) SNV
Germline		 Chr3:39391865 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352202935 rs_772425489

1 SubmittersRCV001526371
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) SNV
Germline		 Chr3:39391956 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA352203585 rs_121918331

2 SubmittersRCV001526360RCV003558832
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) SNV
Germline		 Chr3:39391958 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352203595 rs_2125580560

1 SubmittersRCV001526384
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) SNV
Germline		 Chr3:39391965 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA352203641 rs_2125580580

2 SubmittersRCV001526367RCV005094713
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) SNV
Germline		 Chr3:39391983 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352203792 rs_2125580600

1 SubmittersRCV001526382
NM_017875.4(SLC25A38):c.626-2A>T SNV
Germline		 Chr3:39394408 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352204340 rs_2125582750

1 SubmittersRCV001526385
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) SNV
Germline		 Chr3:39394467 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2327532 rs_755205622

4 SubmittersRCV001526369RCV001751785
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) SNV
Germline		 Chr3:39394473 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352205044 rs_2125582841

1 SubmittersRCV001526372
NM_017875.4(SLC25A38):c.792+5G>C SNV
Germline		 Chr3:39394581 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA2499216774 rs_2125582986

1 SubmittersRCV001526355
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) SNV
Germline		 Chr3:39396437 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352207250 rs_147431446

1 SubmittersRCV001526368
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) SNV
Germline		 Chr3:39396437 Pathogenic/Likely pathogenic Sideroblastic anemia 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2327564 rs_147431446

4 SubmittersRCV001526364RCV004697134
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) SNV
Germline		 Chr3:39396484 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352207531 rs_1156987118

1 SubmittersRCV001526379
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) SNV
Germline		 Chr3:39396518 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352207744 rs_1218815001

1 SubmittersRCV001526358
NM_017875.4(SLC25A38):c.276+1G>C SNV
Germline		 Chr3:39390508 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA352199993 rs_2125578753

1 SubmittersRCV001970260
NM_017875.4(SLC25A38):c.454G>T (p.Glu152Ter) SNV
Germline		 Chr3:39391618 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA352201660 rs_1416227038

1 SubmittersRCV002853131
NM_017875.4(SLC25A38):c.458G>A (p.Ser153Asn) SNV
Germline		 Chr3:39391854 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2327473 rs_139671810

2 SubmittersRCV002928569
NM_017875.4(SLC25A38):c.793-1G>C SNV
Germline		 Chr3:39396397 Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352207003 rs_2470562327

1 SubmittersRCV003454384
NM_017875.4(SLC25A38):c.14C>G (p.Ser5Ter) SNV
Germline		 Chr3:39383738 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA352196583 rs_1245684154

1 SubmittersRCV003822220
NM_017875.4(SLC25A38):c.275C>G (p.Pro92Arg) SNV
Germline		 Chr3:39390506 Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352199981 rs_2470551499

1 SubmittersRCV003990435
NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter) SNV
Unknown		 Chr3:39391955 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
 CA352203583 rs_1180926625

1 SubmittersRCV004006217
NM_017875.4(SLC25A38):c.448C>T (p.Arg150Cys) SNV
Germline		 Chr3:39391612 Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter

1 SubmittersRCV005035317