ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) (rs779001930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761113 SCV000891029 uncertain significance Noonan syndrome 2020-09-22 criteria provided, single submitter clinical testing
Invitae RCV001207035 SCV001378372 uncertain significance Rasopathy 2019-06-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 11 of the RAF1 protein (p.Ile11Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. 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: 620618). 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). 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.

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