ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2930T>A (p.Phe977Tyr) (rs1596570459)

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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 RCV001002475 SCV001160423 uncertain significance Polycystic kidney disease, adult type 2019-03-22 criteria provided, single submitter clinical testing The PKD1 c.2930T>A; p.Phe977Tyr 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 phenylalanine at codon 977 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Given the lack of clinical and functional data, the significance of the p.Phe977Tyr variant is uncertain at this time.

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