Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001873201 | SCV002202482 | uncertain significance | not provided | 2022-12-06 | 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. 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 COL9A2 protein function. ClinVar contains an entry for this variant (Variation ID: 635165). This missense change has been observed in individual(s) with clinical features of COL9A2-related conditions (PMID: 31896775). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 592 of the COL9A2 protein (p.Gly592Ser). |
Molecular Genetics Laboratory, |
RCV000786021 | SCV000924661 | likely pathogenic | Stickler syndrome | 2017-12-13 | no assertion criteria provided | research |