ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val)

dbSNP: rs587779445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004815184 SCV005439242 pathogenic not provided 2024-06-10 criteria provided, single submitter clinical testing Identified in a patient with vascular Ehlers-Danlos syndrome in the published literature, however detailed clinical information was not provided (PMID: 24922459); Occurs in the triple helical domain and replaces the glycine in the canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (HGMD); 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; This variant is associated with the following publications: (PMID: 24922459)
Collagen Diagnostic Laboratory, University of Washington RCV000087370 SCV000120252 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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