ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) (rs749092859)

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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 RCV000757652 SCV000885953 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing The PKD1 c.3667G>A; p.Val1223Met variant has been reported in an individual affected with autosomal dominant polycystic kidney disease (Eisenberger 2015). This variant is observed in the general population at a low overall frequency of 0.0009% (2/234864 alleles) in the Genome Aggregation Database, but is considered a low confidence variant in the database. The valine at codon 1223 is moderately conserved and computational algorithms (SIFT, PolyPhen2) predict that this variant is deleterious. However, due to the lack of functional data regarding this variant, its clinical significance cannot be determined with certainty. References: Eisenberger T et al. An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease. PLoS One. 2015; 10(2): e0116680.

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