ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro)

dbSNP: rs1596556474
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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 RCV001002256 SCV001160132 uncertain significance Polycystic kidney disease, adult type 2018-11-23 criteria provided, single submitter clinical testing The PKD1 c.5108T>C; p.Leu1703Pro variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at codon 1703 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Leu1703Pro variant is uncertain at this time.

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