ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.869C>A (p.Pro290His)

dbSNP: rs2058820862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347431 SCV001541690 uncertain significance RASopathy 2020-08-23 criteria provided, single submitter clinical testing 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 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"). This variant has not been reported in the literature in individuals with RAF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with histidine at codon 290 of the RAF1 protein (p.Pro290His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine.
PreventionGenetics, part of Exact Sciences RCV004528474 SCV004104204 uncertain significance RAF1-related disorder 2023-03-27 criteria provided, single submitter clinical testing The RAF1 c.869C>A variant is predicted to result in the amino acid substitution p.Pro290His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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