ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)

gnomAD frequency: 0.00003  dbSNP: rs375318905
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
Baylor Genetics RCV001328887 SCV001520122 uncertain significance Bethlem myopathy 1A 2019-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001328887 SCV003520083 benign Bethlem myopathy 1A 2023-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546283 SCV003670768 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.1960G>A (p.E654K) alteration is located in exon 31 (coding exon 31) of the COL6A1 gene. This alteration results from a G to A substitution at nucleotide position 1960, causing the glutamic acid (E) at amino acid position 654 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145576 SCV003833786 uncertain significance not provided 2019-02-06 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.