ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val) (rs756838066)

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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 RCV001002613 SCV001160591 uncertain significance Polycystic kidney disease, adult type 2019-05-19 criteria provided, single submitter clinical testing The PKD1 c.7712C>T; p.Ala2571Val variant (rs756838066), to our knowledge, is not reported in the medical literature but is listed in the Mayo ADPKD database (see link). This variant is found on a single chromosome (1/239256 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 2571 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Ala2571Val variant is uncertain at this time. References: Mayo ADPKD database:

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