ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2059G>C (p.Asp687His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145009 SCV003830741 uncertain significance not provided 2021-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005227905 SCV005867241 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 687 of the CLCN1 protein (p.Asp687His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of autosomal dominant myotonia congenita (PMID: 23739125). ClinVar contains an entry for this variant (Variation ID: 2440109). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CLCN1 protein function. 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.

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