ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) (rs150054973)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250580 SCV000318570 likely benign Cardiovascular phenotype 2019-09-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000477169 SCV000552092 uncertain significance Rasopathy 2019-11-10 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 285 of the RAF1 protein (p.Ser285Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs150054973, ExAC 0.02%). This variant has not been reported in the literature in individuals with RAF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 263589). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261034 SCV001438435 likely benign Noonan syndrome no assertion criteria provided clinical testing
GeneDx RCV001568261 SCV001792103 uncertain significance not provided 2019-08-30 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 263589; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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