ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1850A>G (p.Asn617Ser)

gnomAD frequency: 0.00001  dbSNP: rs933142627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322939 SCV001513834 uncertain significance RASopathy 2020-05-22 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with RAF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 617 of the RAF1 protein (p.Asn617Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.
GeneDx RCV001567851 SCV001791615 uncertain significance not provided 2020-12-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014)

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