ClinVar Miner

Submissions for variant NM_000083.2(CLCN1):c.1205C>T (p.Ala402Val) (rs202119213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481219 SCV000568785 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing The A402V variant was previously reported in a patient with possible myotonia congenita (Fialho et al., 2007), and in two patients with a presumptive diagnosis of paroxysmal kinesigenic dyskinesia (Wang et al., 2016), however, functional studies were not completed in either publication. The A402V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, A402V was reported in the 1000 Genomes Project in 3/1008 (0.3%) alleles from individuals of East Asian background. The A402V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved in mammals, and missense variants in nearby residues (T398I; P408A) have been reported in the Human Gene Mutation Database in association with myotonia congenita (Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000297363 SCV000467114 likely benign Myotonia congenita 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000638258 SCV000759745 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2017-11-08 criteria provided, single submitter clinical testing

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