Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520450 | SCV000617609 | pathogenic | not provided | 2020-07-28 | criteria provided, single submitter | clinical testing | Has been reported in association with vascular EDS (Pepin et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain and replaces the glycine in the canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Stenson et al., 2014); Reported in ClinVar as pathogenic (ClinVar Variant ID# 101361; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 24922459) |
Collagen Diagnostic Laboratory, |
RCV000087599 | SCV000120489 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing |