ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) (rs201861334)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000368010 SCV000467132 likely benign Myotonia congenita 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000700433 SCV000829187 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 849 of the CLCN1 protein (p.Ala849Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs201861334, ExAC 0.06%). This variant has not been reported in the literature in individuals with CLCN1-related disease. ClinVar contains an entry for this variant (Variation ID: 359124). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics Inc RCV000711230 SCV000841562 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000700433 SCV000992750 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2012-10-17 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.