ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu)

gnomAD frequency: 0.00002  dbSNP: rs780846555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523175 SCV000617144 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Identified independently and in conjunction with additional variants in individuals referred for connective tissue disorder testing at GeneDx, but segregation data is limited or absent at this time; Not observed at significant frequency in large population cohorts (gnomAD); 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)
Labcorp Genetics (formerly Invitae), Labcorp RCV003593978 SCV004285159 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-12-12 criteria provided, single submitter clinical testing

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