ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.698G>A (p.Gly233Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005252410 SCV005905010 uncertain significance Congenital myotonia, autosomal recessive form 2023-10-18 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense variant In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.98 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.95 (>=0.6, sensitivity 0.72 and precision 0.9)]. Different missense changes at the same codon (p.Gly233Ser, p.Gly233Val) have been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000804708 /PMID: 22094069, 22790975 /3billion dataset). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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