ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1317A>G (p.Lys439=)

dbSNP: rs569455230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735052 SCV000863241 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Invitae RCV002535414 SCV003466505 uncertain significance RASopathy 2022-03-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 598618). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. This variant is present in population databases (rs569455230, gnomAD 0.006%). This sequence change affects codon 439 of the BRAF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRAF protein. 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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