ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)

dbSNP: rs2116852900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663450 SCV001879857 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859425 SCV002114746 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-08-18 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt CLCN1 protein function. This sequence change replaces threonine with alanine at codon 335 of the CLCN1 protein (p.Thr335Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLCN1-related conditions. 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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