ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu)

dbSNP: rs1562335715
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699221 SCV000827922 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 576670). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 10 of the COL12A1 protein (p.Ala10Glu).
GeneDx RCV001564120 SCV001787229 uncertain significance not provided 2020-12-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; No data available from ethnically-matched control populations to assess the frequency of this variant; In silico analysis supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 576670; Landrum et al., 2016)
Centogene AG - the Rare Disease Company RCV001809765 SCV002059539 uncertain significance Bethlem myopathy 2 2021-06-02 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.