ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)

gnomAD frequency: 0.00002  dbSNP: rs747082651
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705347 SCV000834339 benign Bethlem myopathy 1A 2022-07-05 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000705347 SCV001860279 uncertain significance Bethlem myopathy 1A 2021-04-05 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 9 of the COL6A3 gene that results in the amino acid substitution of Methionine for Valine at codon 1234 was detected. The observed variant c.3700G>A (p.Val1234Met) has a minor allele frequency of 0.002% and 0.005% in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv), and damaging by SIFT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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.