ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1784G>A (p.Gly595Glu)

dbSNP: rs111033553
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 RCV001851931 SCV002230784 pathogenic not provided 2021-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 595 of the COL10A1 protein (p.Gly595Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with metaphyseal chondrodysplasia, Schmid type (PMID: 7607655). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17479). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Gly595 amino acid residue in COL10A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10721676, 15880705, 16088909; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
OMIM RCV000019031 SCV000039318 pathogenic Metaphyseal chondrodysplasia, Schmid type 1998-12-01 no assertion criteria provided literature only

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.