Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
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. |
Gene |
RCV001281106 | SCV001468572 | not provided | MIRAGE syndrome | no assertion provided | literature only |