ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile)

dbSNP: rs776616291
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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 RCV001002650 SCV001160635 uncertain significance Polycystic kidney disease, adult type 2019-06-04 criteria provided, single submitter clinical testing The PKD1 c.10426G>A; p.Val3476Ile variant (rs776616291), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 3476 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Val3476Ile variant is uncertain at this time.

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