Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000536397 | SCV000631673 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2017-01-27 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 7 of the COL3A1 mRNA (c.608delC), causing a frameshift at codon 203. This creates a premature translational stop signal (p.Pro203Leufs*19) 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 COL3A1 are known to be pathogenic (PMID: 24922459). For these reasons, this variant has been classified as Pathogenic. |