ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1236A>G (p.Gln412=)

dbSNP: rs2116854694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001477836 SCV001682089 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-06-24 criteria provided, single submitter clinical testing
GeneDx RCV001561399 SCV001783999 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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