ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln)

gnomAD frequency: 0.00003  dbSNP: rs760351874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538282 SCV000636310 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 683 of the CLCN1 protein (p.Glu683Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs760351874, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003144331 SCV003830691 uncertain significance not provided 2021-01-19 criteria provided, single submitter clinical testing
GeneDx RCV003144331 SCV004023829 uncertain significance not provided 2023-02-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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