ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002917675 SCV003250289 benign Ehlers-Danlos syndrome, classic type, 1 2022-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167903 SCV003912711 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-01 criteria provided, single submitter clinical testing The p.R956Q variant (also known as c.2867G>A), located in coding exon 42 of the COL5A2 gene, results from a G to A substitution at nucleotide position 2867. The arginine at codon 956 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003434517 SCV004118591 uncertain significance COL5A2-related disorder 2023-01-25 criteria provided, single submitter clinical testing The COL5A2 c.2867G>A variant is predicted to result in the amino acid substitution p.Arg956Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189916110-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003759764 SCV004563545 likely benign Ehlers-Danlos syndrome, classic type, 2 2023-11-10 criteria provided, single submitter clinical testing

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