ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)

dbSNP: rs121912810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387727 SCV004099686 uncertain significance not specified 2023-09-11 criteria provided, single submitter clinical testing Variant summary: CLCN1 c.566C>T (p.Ser189Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251486 control chromosomes. c.566C>T has been reported in the literature in individuals affected with Myotonia congenita (Dupre_2009). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 18337100). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
OMIM RCV000019102 SCV000039390 pathogenic Congenital myotonia, autosomal dominant form 2009-05-01 no assertion criteria provided literature only

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