ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.580T>A (p.Leu194Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353109 SCV002647412 uncertain significance Cardiovascular phenotype 2022-02-04 criteria provided, single submitter clinical testing The p.L194I variant (also known as c.580T>A), located in coding exon 4 of the RAF1 gene, results from a T to A substitution at nucleotide position 580. The leucine at codon 194 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096883 SCV003468246 uncertain significance RASopathy 2022-06-08 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RAF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 194 of the RAF1 protein (p.Leu194Ile).

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