ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)

dbSNP: rs1563080014
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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 RCV000711217 SCV000841549 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000711217 SCV003830786 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV004527394 SCV005038721 likely pathogenic Congenital myotonia, autosomal recessive form criteria provided, single submitter research Thec.1295C>G (p.(Thr432Arg)) variant was found in a heterozygous state in 4 Slovak patients with Myotonia congenita, and it was always present in cis with another variant c.905A>G (p.(Tyr302Cys)), as already pointed by Skálová et al. 2013 (PMID: 24349310). In two of these patients also other Likely Pathogenic variants were found in the trans position, namely c.2364+2T>C and c.1471+1G>A. The c.1295C>G (p.(Thr432Arg)) variant is listed as a disease-causing in the HGMD database (CM1313402). GnomAD Exomes Version: 4.0 indicates the frequency of f = 0.00000205.

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