ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1096T>C (p.Ser366Pro)

dbSNP: rs2092666416
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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 RCV001286230 SCV001472763 uncertain significance Polycystic kidney disease, adult type 2019-11-25 criteria provided, single submitter clinical testing The PKD1 c.1096T>C; p.Ser366Pro 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 serine at codon 366 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.Ser366Pro variant is uncertain at this time.

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