ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) (rs80356697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224306 SCV001396495 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 556 of the CLCN1 protein (p.Ile556Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is present in population databases (rs80356697, ExAC 0.01%). This variant has been observed in the homozygous state in individuals affected with myotonia congenita as well as in the heterozygous state in more mildly affected and clinically unaffected individuals (PMID: 9566422, 19882638, Invitae). ClinVar contains an entry for this variant (Variation ID: 21041). This variant has been reported to affect CLCN1 protein function (PMID: 9736777, 10051520). 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.
GeneReviews RCV000020104 SCV000040424 pathologic Myotonia congenita 2011-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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