ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)

dbSNP: rs545574407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234996 SCV000945692 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 302 of the COL5A2 protein (p.Arg302Pro). This variant is present in population databases (rs545574407, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 650555). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV003307483 SCV003999364 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-25 criteria provided, single submitter clinical testing The p.R302P variant (also known as c.905G>C), located in coding exon 13 of the COL5A2 gene, results from a G to C substitution at nucleotide position 905. The arginine at codon 302 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is highly 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.

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