ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Gastroenterological Surgery, Kumamoto University RCV003412535 SCV004101783 likely pathogenic Ehlers-Danlos syndrome, type 4 2021-06-11 no assertion criteria provided clinical testing The vascular Ehlers-Danlos syndrome (EDS), also known as type IV EDS, is associated with arterial, digestive, and uterine complications, including intestinal perforation, rarely manifest in other types of EDS. The variants of the COL3A1 gene have been reported including c.2095G>C, p.Gly699Arg and c.2095G>A, p.Gly699Asp (Pepin 2014). Herein we describe a novel likely pathogenic variant, a missense mutation in the COL3A1gene (c.2095G>T, p.Gly699Cys) detected in the Japanese family with typical symptoms of type IV EDS including multiple intestinal perforations or aortic rupture.

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