ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)

dbSNP: rs80356694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237767 SCV001410541 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect CLCN1 protein function (PMID: 8112288, 8845168). This variant has been observed in individuals affected with myotonia congenita and to segregate with disease in a family (PMID: 8112288, 18337730, Invitae). ClinVar contains an entry for this variant (Variation ID: 17537). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 480 of the CLCN1 protein (p.Pro480Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
OMIM RCV000019089 SCV000039377 pathogenic Congenital myotonia, autosomal dominant form 2003-04-01 no assertion criteria provided literature only
GeneReviews RCV000020101 SCV000040421 not provided Batten-Turner congenital myopathy no assertion provided literature only

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