ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1658A>G (p.Asn553Ser)

dbSNP: rs1411490030
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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 RCV001061903 SCV001226666 uncertain significance RASopathy 2019-04-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 553 of the RAF1 protein (p.Asn553Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant has not been reported in the literature in individuals with RAF1-related conditions. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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