ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)

dbSNP: rs1554438432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517996 SCV000612767 likely pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001041972 SCV001205626 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr539Serfs*40) 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: 447055). For these reasons, this variant has been classified as Pathogenic.

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