ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) (rs368174673)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498868 SCV000590507 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The V404M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V404M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (R398Q and P409S) have been reported in Human Gene Mutation Database in association with KCNT1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein.. However, the V404M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, 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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