ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro)

gnomAD frequency: 0.00001  dbSNP: rs376821494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480842 SCV000573757 uncertain significance not provided 2024-03-28 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); Occurs in the triple helical domain at the Y 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 Y position is not a common mechanism of disease (PMID: 22696272; HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV001865486 SCV002222312 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-10-23 criteria provided, single submitter clinical testing

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