ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4232delG

dbSNP: rs1060502259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230834 SCV000549005 pathogenic Ehlers-Danlos syndrome, classic type, 1 2016-07-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 55 of the COL5A1 mRNA (c.4232delG), causing a frameshift at codon 1411. This creates a premature translational stop signal (p.Gly1411Glufs*77) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). For these reasons, this variant has been classified as Pathogenic.

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