Total 8 pathogenic variants reported for Dicarboxylic aminoaciduria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004170.6(SLC1A1):c.1333C>T (p.Arg445Trp) SNV
Germline		 Chr9:4585316 Pathogenic Dicarboxylic aminoaciduria No Assertion Criteria Provided
 CA170708 rs_587777696

1 SubmittersRCV000143976
NM_004170.6(SLC1A1):c.633C>T (p.Asn211=) SNV
Germline		 Chr9:4572254 Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria
Condition: not provided
SLC1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA4969080 rs_143022823

3 SubmittersRCV000287181RCV000971769RCV003912581
NM_004170.6(SLC1A1):c.123C>T (p.His41=) SNV
Germline		 Chr9:4544598 Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4968842 rs_142272329

2 SubmittersRCV000368342RCV000912665
NM_004170.6(SLC1A1):c.1227T>C (p.Ala409=) SNV
Germline		 Chr9:4583071 Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4969280 rs_147404292

2 SubmittersRCV000307381RCV000925858
NM_004170.6(SLC1A1):c.1200G>A (p.Thr400=) SNV
Germline		 Chr9:4583044 Conflicting classifications of pathogenicity Condition: not provided
Dicarboxylic aminoaciduria		 Criteria Provided
Conflicting Classifications
 rs_144334183

2 SubmittersRCV000886005RCV001169603
NM_004170.6(SLC1A1):c.920T>C (p.Ile307Thr) SNV
Germline		 Chr9:4576045 Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria
SLC1A1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_34342853

2 SubmittersRCV001167728RCV003908420
NM_004170.6(SLC1A1):c.484-2A>G SNV
Germline		 Chr9:4567667 Likely pathogenic Dicarboxylic aminoaciduria Criteria Provided
Single Submitter

1 SubmittersRCV003990555