ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val) (rs1596540533)

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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 RCV001000911 SCV001157996 uncertain significance Polycystic kidney disease, adult type 2018-11-12 criteria provided, single submitter clinical testing The PKD1 c.7499A>T; p.Asp2500Val variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at codon 2500 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Asp2500Val variant is uncertain at this time.

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