ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6064-6C>T

gnomAD frequency: 0.00013  dbSNP: rs202091342
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
PreventionGenetics, part of Exact Sciences RCV000250434 SCV000310195 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000250434 SCV000338051 benign not specified 2015-12-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345443 SCV000428772 benign Collagen 6-related 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000550949 SCV000657362 benign Bethlem myopathy 1A 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001722320 SCV000717590 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250434 SCV005077450 benign not specified 2024-04-04 criteria provided, single submitter clinical testing Variant summary: COL6A3 c.6064-6C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0005 in 1612502 control chromosomes, predominantly at a frequency of 0.006 within the South Asian subpopulation in the gnomAD database, including 6 homozygotes. The observed variant frequency within South Asian control individuals in the gnomAD database (v4.0.0) strongly suggests that the variant is a benign polymorphism found primarily in populations of South Asian origin. To our knowledge, no occurrence of c.6064-6C>T in individuals affected with Ullrich Congenital Muscular Dystrophy 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 259309). Based on the evidence outlined above, the variant was classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV001722320 SCV005261809 likely 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.