ClinVar Miner

Submissions for variant NM_213655.4(WNK1):c.3515A>G (p.His1172Arg) (rs1064796902)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481962 SCV000574101 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the WNK1 gene. The H1172R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H1172R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H1172R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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