ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly)

gnomAD frequency: 0.00002  dbSNP: rs760693424
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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 RCV001225139 SCV001397378 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 641 of the CLCN1 protein (p.Asp641Gly). This variant is present in population databases (rs760693424, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 952928). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV003145423 SCV003830725 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing

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