ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.814_815delinsAA (p.Ala272Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002297520 SCV002592903 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-08-21 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 272 of the CLCN1 protein (p.Ala272Asn).

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