Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811785 | SCV002050212 | uncertain significance | not provided | 2021-10-25 | criteria provided, single submitter | clinical testing | The COL3A1 c.111G>C; p.Gln37His variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glutamine at codon 37 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.401). Due to limited information, the clinical significance of the p.Gln37His variant is uncertain at this time. |
Labcorp Genetics |
RCV003120695 | SCV003786315 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2022-08-21 | 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 not expected to disrupt COL3A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1330657). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 37 of the COL3A1 protein (p.Gln37His). |