ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.279+2T>C

dbSNP: 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 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

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