ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV004527495 SCV005038729 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form criteria provided, single submitter research The c.1255A>T (p.(Met419Leu)) variant was found in a heterozygous state in 1 Slovak patient with Myotonia congenita. No other pathogenic or likely pathogenic variants were found in this individual, whose alternative diagnosis was also Myotonic Dystrophy. The c.1255A>T variant is not listed in the publicly available HGMD database (CM940286) and neither in dbSNP nor GnomAD Exomes databases.

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