Total submissions: 1
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. |