ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.61dup (p.Gln21fs)

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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 RCV003042207 SCV003329332 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln21Profs*8) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2110120). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003138450 SCV003826790 likely pathogenic not provided 2022-03-31 criteria provided, single submitter clinical testing

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