ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)

gnomAD frequency: 0.00001  dbSNP: rs201582108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432639 SCV000518225 uncertain significance not provided 2022-08-10 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; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; 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); This variant is associated with the following publications: (PMID: 22696272, 33206719)
Labcorp Genetics (formerly Invitae), Labcorp RCV002230243 SCV001511222 benign Ehlers-Danlos syndrome, classic type, 1 2023-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044636 SCV005678131 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2024-05-23 criteria provided, single submitter clinical testing

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