ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249611 SCV001423641 likely pathogenic Ehlers-Danlos syndrome, type 4 2018-12-17 criteria provided, single submitter clinical testing [ACMG/AMP: PM1, PM2, PP2, PP3] This alteration is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].

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