Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
RCV000087532 | SCV005061587 | likely pathogenic | Ehlers-Danlos syndrome, type 4 | 2024-06-18 | criteria provided, single submitter | clinical testing | Heterozygous variant NM_000090:c.3104G>T (p.Gly1035Val) in the COL3A1 gene was found on WES data in female proband (43 y.o., Caucasian) with Ehlers-Danlos syndrome, vascular type. This variant is absent in The Genome Aggregation Database (gnomAD) v2.1.1 and v4.1.0 (Date of access with 17-06-2024). Clinvar contains an entry for this variant (Variation ID: 101294). This variant has been reported in 1 study cohort (PMID: 24922459). Most in silico predictors show pathogenic result of the protein change (varsome.com). Alternative missense changes c.3103G>A (p.Gly1035Ser) and c.3103G>T p.Gly1035Cys) with same predicted impact have been observed by other researchers. In accordance with ACMG(2015) criteria this variant is classified as Likely Pathogenic with following criteria selected: PM2, PM1, PM5_Supporting, PP2, PP3, PP5. |
Collagen Diagnostic Laboratory, |
RCV000087532 | SCV000120419 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing |