ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) (rs150405131)

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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 RCV001001188 SCV001158342 uncertain significance Polycystic kidney disease, adult type 2019-03-27 criteria provided, single submitter clinical testing The PKD1 c.4838C>T; p.Ala1613Val variant (rs150405131), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the African population with an overall allele frequency of 0.14% (35/24802 alleles) in the Genome Aggregation Database. The alanine at codon 1613 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.Ala1613Val variant is uncertain at this time.

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