ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) (rs727504819)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000388257 SCV000330361 uncertain significance not provided 2016-03-23 criteria provided, single submitter clinical testing The R108L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant 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. R108L is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position within the protein kinase domain that is conserved across species; however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000763976 SCV000894927 uncertain significance Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027695 SCV001190269 likely pathogenic Cardiofaciocutaneous syndrome 3 2019-06-28 no assertion criteria provided clinical testing

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