ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074660 SCV003453275 uncertain significance Ehlers-Danlos syndrome, type 4 2022-05-17 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 695 of the COL3A1 protein (p.Arg695Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. 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.
All of Us Research Program, National Institutes of Health RCV003074660 SCV004838924 uncertain significance Ehlers-Danlos syndrome, type 4 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004823094 SCV005568912 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-09-19 criteria provided, single submitter clinical testing The p.R695K variant (also known as c.2084G>A), located in coding exon 30 of the COL3A1 gene, results from a G to A substitution at nucleotide position 2084. The arginine at codon 695 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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