ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) (rs1596551934)

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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 RCV001002587 SCV001160560 uncertain significance Polycystic kidney disease, adult type 2019-05-06 criteria provided, single submitter clinical testing The PKD1 c.6335A>C; p.His2112Pro 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 histidine at codon 2112 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, another variants at this codon (c.6335A>T; p.His2112Leu) have been reported in at least one individual with autosomal dominant polycystic kidney disease (Kurashige 2015). However, given the lack of clinical and functional data, the significance of the p.His2112Pro variant is uncertain at this time. References: Kurashige M et al. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease. Clin Genet. 2015 Mar;87(3):266-72.

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