ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)

gnomAD frequency: 0.00004  dbSNP: rs148687561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195410 SCV000249913 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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)
Labcorp Genetics (formerly Invitae), Labcorp RCV002228862 SCV000824195 benign Ehlers-Danlos syndrome, classic type, 1 2022-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503762 SCV002814677 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2022-05-06 criteria provided, single submitter clinical testing

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