Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857237 | SCV002275765 | pathogenic | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 438682). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the triple helix domain of COL2A1. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL2A1, variants affecting these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC). This variant is also known as G817-V822del6aa. This variant has been observed in individuals with autosomal dominant hypochondrogenesis (PMID: 10797431, 34529350). This variant is not present in population databases (gnomAD no frequency). This variant, c.3062_3079del, results in the deletion of 6 amino acid(s) of the COL2A1 protein (p.Pro1021_Gly1026del), but otherwise preserves the integrity of the reading frame. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000505580 | SCV000599839 | likely pathogenic | Achondrogenesis type II | 2017-04-20 | no assertion criteria provided | clinical testing |