ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2138G>A (p.Arg713Gln) (rs483352826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414070 SCV000491095 uncertain significance not provided 2015-10-27 criteria provided, single submitter clinical testing The R713Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R713Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. A missense variant in a nearby residue (A708T) has been reported in the Human Gene Mutation Database in association with Noonan syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) RCV000106329 SCV000143827 not provided Noonan syndrome 4 no assertion provided not provided

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