ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.261C>T (p.Thr87=)

gnomAD frequency: 0.37404  dbSNP: rs6962852
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000353487 SCV000467098 benign Batten-Turner congenital myopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000429709 SCV000519235 benign not specified 2016-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516971 SCV001725351 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579025 SCV001806416 benign Congenital myotonia, autosomal dominant form 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579026 SCV001806417 benign Congenital myotonia, autosomal recessive form 2021-07-22 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001516971 SCV005038733 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form criteria provided, single submitter research The c.261C>T (p.(Thr87=))variant was found in 16 Slovak patients with Myotonia congenita, in 3 and 13 in homozygous and heterozygous states, respectively. It is a silent variant, it is predicted to be benign by multiple in silico algorithms, and/or has a population frequency not consistent with the disease (gnomAD ExomesVersion: 4.0 frequency f = 0.303).
Breakthrough Genomics, Breakthrough Genomics RCV004712360 SCV005270759 benign not provided criteria provided, single submitter not provided

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.