ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr)

gnomAD frequency: 0.00011  dbSNP: rs146195310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002237103 SCV001198168 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001585933 SCV001812996 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with a COL5A1-related disorder to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Symoens et al., 2012; HGMD).; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34183866)

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