ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)

gnomAD frequency: 0.00001  dbSNP: rs746155819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196681 SCV001367312 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2019-08-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting.
Invitae RCV002240824 SCV001559471 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2020-01-11 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with COL5A2-related conditions. This variant is present in population databases (rs746155819, ExAC 0.002%). This sequence change replaces glutamic acid with aspartic acid at codon 865 of the COL5A2 protein (p.Glu865Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.

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