Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002228037 | SCV000627324 | pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2017-02-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this splicing change leads to skipping of exon 6, which includes part of the triple-helical domain (PMID: 8081389, 2454224). This variant has been reported in several individuals affected with Ehlers-Danlos syndrome VII (PMID: 8081389, 23158907, 2454224). This variant is also known as IVS6+2T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 17233). This variant is not present in population databases (rs72656357, ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the COL1A2 gene. It is expected to disrupt RNA splicing and results in a disrupted protein product. |
OMIM | RCV000018773 | SCV000039056 | pathogenic | Ehlers-danlos syndrome, arthrochalasia type, 2 | 1994-01-01 | no assertion criteria provided | literature only |