ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp)

gnomAD frequency: 0.00004  dbSNP: rs757062073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583673 SCV001819957 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat. Although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014)
Labcorp Genetics (formerly Invitae), Labcorp RCV001882718 SCV002158441 uncertain significance Ehlers-Danlos syndrome, type 4 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 310 of the COL3A1 protein (p.Arg310Trp). This variant is present in population databases (rs757062073, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1214583). 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. 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.
PreventionGenetics, part of Exact Sciences RCV004734242 SCV005355996 uncertain significance COL3A1-related disorder 2024-05-03 no assertion criteria provided clinical testing The COL3A1 c.928C>T variant is predicted to result in the amino acid substitution p.Arg310Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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