Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000303456 | SCV000341124 | likely pathogenic | not provided | 2018-08-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000162347 | SCV001524343 | pathogenic | Metaphyseal chondrodysplasia, Spahr type | 2020-06-10 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000303456 | SCV001586089 | pathogenic | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 207 of the MMP13 protein (p.Trp207Gly). This variant is present in population databases (rs140059558, gnomAD 0.01%). This missense change has been observed in individuals with autosomal recessive metaphyseal dysplasia, Spahr type (PMID: 24648384, 27576021; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 183687). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MMP13 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000303456 | SCV001872883 | likely pathogenic | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 24648384, 27576021, 31130284, 13915518) |
Revvity Omics, |
RCV000303456 | SCV002023492 | likely pathogenic | not provided | 2021-11-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000162347 | SCV000212650 | pathogenic | Metaphyseal chondrodysplasia, Spahr type | 2014-05-01 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000162347 | SCV000854742 | pathogenic | Metaphyseal chondrodysplasia, Spahr type | 2018-06-06 | no assertion criteria provided | clinical testing |