ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)

gnomAD frequency: 0.00001  dbSNP: rs1458760818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241336 SCV001398652 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with glutamine at codon 80 of the COL5A2 protein (p.Leu80Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. 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.
GeneDx RCV001751438 SCV001986495 uncertain significance not provided 2019-06-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003163765 SCV003857030 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-09 criteria provided, single submitter clinical testing The p.L80Q variant (also known as c.239T>A), located in coding exon 2 of the COL5A2 gene, results from a T to A substitution at nucleotide position 239. The leucine at codon 80 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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