ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) (rs202179484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517685 SCV000612801 likely pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000517685 SCV000617774 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing The V299L variant in the CLCN1 gene has been reported previously in the homozygous state in an individual with myotonia congenita (Fialho et al., 2007). The V299L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V299L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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. We interpret V299L as a variant of uncertain significance.

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