ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)

dbSNP: rs1131691551
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494185 SCV000582367 likely pathogenic not provided 2023-01-10 criteria provided, single submitter clinical testing Reported with a second CLCN1 variant, phase unknown, in an individual with non-dystrophic myotonia in published literature (Vereb et al., 2021); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22094069, 23739125, 17932099, 33263785)
Labcorp Genetics (formerly Invitae), Labcorp RCV001387794 SCV001588512 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu801*) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive CLCN1-related conditions (PMID: 33263785). ClinVar contains an entry for this variant (Variation ID: 429728). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002289680 SCV002580989 pathogenic Congenital myotonia, autosomal recessive form 2022-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001387794 SCV005667256 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-30 criteria provided, single submitter clinical testing

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