ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)

dbSNP: rs1833261804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240232 SCV001217140 pathogenic Ehlers-Danlos syndrome, classic type, 1 2019-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). This variant has been observed in an individual affected with Ehlers-Danlos syndrome (PMID: 28714197). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln89*) in the COL5A1 gene. It is expected to result in an absent or disrupted protein product.

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