ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.892A>C (p.Asn298His)

dbSNP: rs878854567
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230193 SCV000287744 uncertain significance RASopathy 2018-08-28 criteria provided, single submitter clinical testing In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAF1-related disease. This sequence change replaces asparagine with histidine at codon 298 of the RAF1 protein (p.Asn298His). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and histidine.

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