ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) (rs587782971)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041009 SCV001204603 uncertain significance Rasopathy 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 151 of the RAF1 protein (p.Phe151Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 40592). 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: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.
Blueprint Genetics RCV000143943 SCV000188823 likely pathogenic Noonan syndrome 2013-11-14 no assertion criteria provided clinical testing

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