ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr)

gnomAD frequency: 0.00001  dbSNP: rs756669568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895310 SCV002156369 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 191 of the CLCN1 protein (p.Ile191Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. 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 not been reported in the literature in individuals affected with CLCN1-related conditions. This variant is present in population databases (rs756669568, ExAC 0.003%).

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