ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1234A>G (p.Met412Val)

dbSNP: rs1231291103
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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 RCV002643023 SCV002982340 uncertain significance RASopathy 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 412 of the RAF1 protein (p.Met412Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RAF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1941205). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) did not meet the statistical confidence thresholds required to predict the impact of this variant on RAF1 function. 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.
Ambry Genetics RCV005264252 SCV005927778 uncertain significance Cardiovascular phenotype 2025-02-14 criteria provided, single submitter clinical testing The c.1234A>G (p.M412V) alteration is located in exon 12 (coding exon 11) of the RAF1 gene. This alteration results from a A to G substitution at nucleotide position 1234, causing the methionine (M) at amino acid position 412 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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