ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln)

gnomAD frequency: 0.00001  dbSNP: rs761072017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234442 SCV000755932 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-02-14 criteria provided, single submitter clinical testing
GeneDx RCV003318612 SCV004022542 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing Identified in homozygous state in a patient with a complex congenital heart defect and heterotaxy (Jin et al., 2017); this patient harbored several additional cardiogenetic variants; 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: 28991257)

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