ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys)

gnomAD frequency: 0.00002  dbSNP: rs754581538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552498 SCV000636317 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 763 of the CLCN1 protein (p.Gln763Lys). This variant is present in population databases (rs754581538, gnomAD 0.01%). This missense change has been observed in individual(s) with myotonia congenita (PMID: 23739125). ClinVar contains an entry for this variant (Variation ID: 462838). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003144332 SCV003830767 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing

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