ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly)

gnomAD frequency: 0.00001  dbSNP: rs755560531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001563614 SCV001786590 uncertain significance Polycystic kidney disease, adult type 2020-12-01 criteria provided, single submitter clinical testing The PKD1 c.6356A>G (p.Asp2119Gly) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Control data are unavailable for this variant, which is reported at a frequency of 0.000029 in the European (non-Finnish) population of the Genome Aggregation Database. This variant is found in a gene for which primarily truncating variants are known to be disease-causing. Based on the limited evidence, the p.Asp2119Gly variant is classified as a variant of uncertain significance for polycystic kidney disease.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001563614 SCV005398818 uncertain significance Polycystic kidney disease, adult type 2024-10-09 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3B. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 1 (MIM#173900) (ADPKD). (I) 0107 - This gene is associated with autosomal dominant disease. Polycystic kidney disease 1 (MIM#173900) is predominantly caused by monoallelic variants, with rare reports of biallelic variants causing disease (OMIM). (I) 0200 - Variant is predicted to result in a missense amino acid change from aspartic acid to glycine. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v3) <0.001 for a dominant condition (2 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (1 heterozygote, 0 homozygotes). (I) 0502 - Missense variant with conflicting in silico predictions and high conservation. (I) 0600 - Variant is located in the annotated PKD domain (DECIPHER). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been classified as a VUS by a clinical laboratory in ClinVar. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics RCV001563614 SCV005641321 uncertain significance Polycystic kidney disease, adult type 2024-01-24 criteria provided, single submitter clinical testing

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