ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln)

dbSNP: rs1791543423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV003405493 SCV004114346 pathogenic SAMD9-related condition 2022-10-08 criteria provided, single submitter clinical testing The SAMD9 c.3878G>A variant is predicted to result in the amino acid substitution p.Arg1293Gln. This variant has been reported as arising de novo in multiple individuals including a fetus with intrauterine death at 28 weeks gestation (Buonocore et al. 2017. PubMed ID: 28346228), and individuals diagnosed with MIRAGE syndrome at birth (Jeffries et al. 2017. PubMed ID: 29266745; Baquedano-Lobera et al. 2021. PubMed ID: 33427306; Table S6 in Sahoo et al. 2021. PubMed ID: 34621053). Functional studies using protein expression in cell culture indicate that p.Arg1293Gln causes a gain of function in the growth suppression activity of the protein (Buonocore et al. 2017. PubMed ID: 28346228). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Given the evidence, we interpret c.3878G>A (p.Arg1293Gln) as pathogenic.
GeneReviews RCV001281106 SCV001468572 not provided MIRAGE syndrome no assertion provided literature only

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