ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9767G>T (p.Gly3256Val)

dbSNP: rs1596512954
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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 RCV001002495 SCV001160451 uncertain significance Polycystic kidney disease, adult type 2019-04-03 criteria provided, single submitter clinical testing The PKD1 c.9767G>T; p.Gly3256Val 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 glycine at codon 3256 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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