ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup)

dbSNP: rs1562955153
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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 RCV000697258 SCV000825858 likely pathogenic RASopathy 2021-03-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant is found in an individual with BRAF-related disease and is absent from both parents, suggesting that it is de novo in the affected individual (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid(s) is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRAF-related disease. This sequence change inserts 3 nucleotides in exon 12 of the BRAF mRNA (c.1505_1507dupTAG). This leads to the insertion of 1 amino acid residue(s) in the BRAF protein (p.Val502dup) but otherwise preserves the integrity of the reading frame.

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