ClinVar Miner

Submissions for variant NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) (rs397516904)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000208128 SCV000061626 likely pathogenic Cardio-facio-cutaneous syndrome 2016-02-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Blueprint Genetics RCV000208128 SCV000263794 likely pathogenic Cardio-facio-cutaneous syndrome 2015-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000392102 SCV000329763 pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing The Q262P variant has been published previously in association with CFC syndrome, including as an apparently de novo occurrence (Ciara et al., 2015; Cabrera et al., 2016). The variant is not observed in large population cohorts (Lek et al., 2016). Q262P 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missense variants in the same residue (Q262K/R) and in a nearby residue (Q257K/R) have been reported in the Human Gene Mutation Database in association with CFC syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, we consider the variant to be pathogenic.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824915 SCV000965946 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing
PerkinElmer Genomics RCV000392102 SCV002022714 pathogenic not provided 2020-05-11 no assertion criteria provided clinical testing

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