ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) (rs749205522)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706396 SCV000835442 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 851 of the CLCN1 protein (p.Val851Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs749205522, ExAC 0.01%). This variant has been reported as homozygous or in combination with another CLCN1 variant in individuals affected with myotonia congenita (PMID: 22094069, 23739125, 29935101). This variant has also been reported as heterozygous in an individual affected with myotonia congenita; however, the significance of this variant in autosomal dominant CLCN1-related disease is currently unknown (PMID: 29935101). This variant has been reported to affect CLCN1 protein function (PMID: 29935101). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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