ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) (rs1554336974)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677708 SCV000803860 likely pathogenic Mirage syndrome 2016-11-01 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000677708 SCV001364302 pathogenic Mirage syndrome 2020-05-15 criteria provided, single submitter research ACMG codes: PS2, PS3, PM2, PP4
GeneDx RCV001662742 SCV001872888 pathogenic not provided 2021-08-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Published functional studies suggest a damaging effect: gain of function variant resulting in decreased cell proliferation (Buonocore 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 28545555, 28346228, 29217778, 31231135)

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