ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)

gnomAD frequency: 0.00001  dbSNP: rs1554434814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517953 SCV000612790 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851430 SCV002158733 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2020-12-15 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 variant has been observed in individual(s) with autosomal dominant myotonia congenita (PMID: 23113340). ClinVar contains an entry for this variant (Variation ID: 447068). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 183 of the CLCN1 protein (p.Ser183Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. 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.
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV002267616 SCV002549786 uncertain significance Congenital myotonia, autosomal dominant form 2022-04-06 no assertion criteria provided research

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