ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1431T>C (p.His477=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003654644 SCV004520373 uncertain significance RASopathy 2023-02-21 criteria provided, single submitter clinical testing This sequence change affects codon 477 of the BRAF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRAF protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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