ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)

gnomAD frequency: 0.00026  dbSNP: rs115246424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531413 SCV000656161 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420886 SCV001623321 uncertain significance not specified 2021-04-23 criteria provided, single submitter clinical testing Variant summary: COL12A1 c.4613A>G (p.Asn1538Ser) results in a conservative amino acid change located in the Fibronectin type III domain (IPR003961) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 249232 control chromosomes. To our knowledge, no occurrence of c.4613A>G in individuals affected with Bethlem Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. One other clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, citing the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV002466535 SCV002762387 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV002466535 SCV003831221 uncertain significance not provided 2021-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024346 SCV004928487 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.4613A>G (p.N1538S) alteration is located in exon 25 (coding exon 24) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 4613, causing the asparagine (N) at amino acid position 1538 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.