ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.768G>C (p.Arg256Ser) (rs397516826)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037700 SCV000061362 likely pathogenic Noonan syndrome 2011-08-30 criteria provided, single submitter clinical testing A different nucleotide change, 768G>T, leading to an identical amino acid change , Arg256Ser, has been reported previously in the literature in one individual wi th Noonan syndrome (Pandit, 2007). The 768G>T variant was not identified in 210 European controls. R256 lies in a domain critical for normal RAF1 protein functi on, and many pathogenic variants have been identified in this region. This resid ue is completely conserved across evolutionarily distinct species and computatio nal analyses (PolyPhen2, SIFT, AlignGVGD) predict that this variant will impact the normal function of the protein. It should be noted that the sensitivity and specificity of these computational programs has not been determined by our labor atory. It is likely that this variant is pathogenic and responsible for the cli nical features observed in this individual.

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