ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.815C>T (p.Ala272Val)

dbSNP: rs1563075892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693050 SCV000820904 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2018-06-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces alanine with valine at codon 272 of the CLCN1 protein (p.Ala272Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLCN1-related disease. Experimental studies have shown that this missense change alters chloride currents, however, the significance of this finding remains unclear (PMID: 20398785).
Revvity Omics, Revvity RCV003144519 SCV003830737 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing

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