ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala)

gnomAD frequency: 0.00009  dbSNP: rs556167410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520717 SCV000620788 uncertain significance not provided 2019-02-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in a patient with ischemia due to spontaneous, recurrent, bilateral carotid artery dissection in the published literature; this patient was also homozygous for a second rare variant in COL5A1 (Qin et al., 2017); This variant is associated with the following publications: (PMID: 28093518)
Labcorp Genetics (formerly Invitae), Labcorp RCV002060281 SCV002482805 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-04-04 criteria provided, single submitter clinical testing

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