ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.279+2T>C (rs72656357)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548548 SCV000627324 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2017-02-27 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (rs72656357, ExAC no frequency). 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). 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018773 SCV000039056 pathogenic EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 1994-01-01 no assertion criteria provided literature only

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