ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10163del (p.Ala3388fs)

dbSNP: rs1596503384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002288 SCV001160173 pathogenic Polycystic kidney disease, adult type 2018-12-14 criteria provided, single submitter clinical testing The PKD1 c.10163delC; p.Ala3388fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, the p.Ala3388fs variant is considered to be pathogenic.

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