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: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002240824 SCV001559471 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2020-01-11 criteria provided, single submitter clinical testing 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. 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%).
GeneDx RCV004761966 SCV005373015 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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