Total 47 pathogenic variants reported for Myopathy, lactic acidosis, and sideroblastic anemia 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) SNV
Germline		 Chr12:131932301 Pathogenic/Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115605 rs_104894371

6 SubmittersRCV000002645RCV001384611
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) SNV
Germline		 Chr12:131941405 Pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 No Assertion Criteria Provided
 CA115607 rs_104894372

1 SubmittersRCV000002646
NM_025215.6(PUS1):c.984G>A (p.Ala328=) SNV
Germline		 Chr12:131941731 Conflicting classifications of pathogenicity not specified
Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA324904 rs_143660941

4 SubmittersRCV000200343RCV000941621RCV001109672
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) SNV
Germline		 Chr12:131941887 Conflicting classifications of pathogenicity not specified
Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA323140 rs_138198591

4 SubmittersRCV000198610RCV000905925RCV001111977
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) SNV
Germline		 Chr12:131941630 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter
 CA351619 rs_869025309

2 SubmittersRCV000207447
NM_025215.6(PUS1):c.216T>C (p.Gly72=) SNV
Germline		 Chr12:131930048 Conflicting classifications of pathogenicity Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA6884031 rs_766451588

3 SubmittersRCV000979806RCV000380284
NM_025215.6(PUS1):c.423C>A (p.Arg141=) SNV
Germline		 Chr12:131932294 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10632255 rs_371752870

2 SubmittersRCV000374121RCV001488169
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) SNV
Germline		 Chr12:131941882 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10632258 rs_886049093

2 SubmittersRCV000307976RCV005260034
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) SNV
Germline		 Chr12:131943568 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided
PUS1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6884386 rs_201441662

5 SubmittersRCV000397880RCV000928666RCV003950043
NM_025215.6(PUS1):c.545-7C>T SNV
Germline		 Chr12:131941285 Conflicting classifications of pathogenicity Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia		 Criteria Provided
Conflicting Classifications
 CA6884181 rs_201541270

4 SubmittersRCV000883230RCV001112337RCV001833522
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) SNV
Germline		 Chr12:131941464 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA6884228 rs_779651314

2 SubmittersRCV000454345
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) SNV
Germline		 Chr12:131941869 Pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 No Assertion Criteria Provided
 CA387299894 rs_779193823

1 SubmittersRCV000853196
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) SNV
Germline		 Chr12:131941755 Conflicting classifications of pathogenicity Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1
PUS1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6884293 rs_145430883

5 SubmittersRCV000969958RCV001109674RCV003936089
NM_025215.6(PUS1):c.904G>A (p.Val302Met) SNV
Germline		 Chr12:131941651 Conflicting classifications of pathogenicity Condition: not provided
PUS1-related disorder
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA6884266 rs_148057665

4 SubmittersRCV000941268RCV003933212RCV001274960
NM_025215.6(PUS1):c.972C>T (p.Asp324=) SNV
Germline		 Chr12:131941719 Conflicting classifications of pathogenicity Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA6884284 rs_200065515

3 SubmittersRCV000944368RCV001109671
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) SNV
Germline		 Chr12:131941815 Conflicting classifications of pathogenicity Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA6884310 rs_201753270

3 SubmittersRCV000940478RCV001111975
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) SNV
Germline		 Chr12:131932236 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6884101 rs_199863621

5 SubmittersRCV001112334RCV002558120RCV003163261
NM_025215.6(PUS1):c.426C>T (p.Cys142=) SNV
Germline		 Chr12:131932297 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6884115 rs_554459931

2 SubmittersRCV001112335RCV001394509
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) SNV
Germline		 Chr12:131941396 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6884211 rs_200591614

4 SubmittersRCV001113696RCV001575667
NM_025215.6(PUS1):c.482G>A (p.Trp161Ter) SNV
Germline		 Chr12:131939213 Pathogenic/Likely pathogenic Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387298514 rs_754855677

2 SubmittersRCV001999822RCV004571708
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) SNV
Germline		 Chr12:131929767 Pathogenic/Likely pathogenic Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1
PUS1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA246181733 rs_895175332

3 SubmittersRCV001953206RCV002283570RCV003401940
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln) SNV
Germline		 Chr12:131941631 Conflicting classifications of pathogenicity Myopathy, lactic acidosis, and sideroblastic anemia 1
not specified		 Criteria Provided
Conflicting Classifications
 CA246187369 rs_1045133170

2 SubmittersRCV002283669RCV003331340
NM_025215.6(PUS1):c.1A>G (p.Met1Val) SNV
Germline		 Chr12:131929723 Conflicting classifications of pathogenicity Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Conflicting Classifications
 CA6883964 rs_761456442

2 SubmittersRCV003076850RCV005010942
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter) SNV
Germline		 Chr12:131939191 Pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387298469 rs_2540870188

2 SubmittersRCV003459727RCV003062557
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter) SNV
Germline		 Chr12:131932289 Pathogenic/Likely pathogenic Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387298117 rs_2540862808

2 SubmittersRCV002894135RCV003464621
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter) SNV
Germline		 Chr12:131941663 Pathogenic/Likely pathogenic Condition: not provided
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387299454 rs_1309276486

2 SubmittersRCV003049575RCV003459711
NM_025215.6(PUS1):c.442-1G>T SNV
Unknown		 Chr12:131939172 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter
 CA387298431 rs_2540870135

1 SubmittersRCV003463403
NM_025215.6(PUS1):c.545-1G>A SNV
Unknown		 Chr12:131941291 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter
 CA387298661 rs_2540872758

1 SubmittersRCV003463404
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter) SNV
Unknown		 Chr12:131941624 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter
 CA387299379 rs_2540873492

1 SubmittersRCV003471753
NM_025215.6(PUS1):c.1237-2A>G SNV
Unknown		 Chr12:131943537 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter
 CA6884379 rs_751632633

1 SubmittersRCV003463405
NM_025215.6(PUS1):c.2T>G (p.Met1Arg) SNV
Germline		 Chr12:131929724 Likely pathogenic PUS1-related disorder
Myopathy, lactic acidosis, and sideroblastic anemia 1		 Criteria Provided
Single Submitter
 CA387296926 rs_2541388135

2 SubmittersRCV003902236RCV005006338
NM_025215.6(PUS1):c.1A>T (p.Met1Leu) SNV
Germline		 Chr12:131929723 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005008894
NM_025215.6(PUS1):c.276T>A (p.Tyr92Ter) SNV
Germline		 Chr12:131930108 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005008895