ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.826G>C (p.Val276Leu)

dbSNP: rs1057518105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414050 SCV000491510 pathogenic not provided 2024-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31573083, 24957944, 15488754, 16439621, 17603483, 29493581)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290531 SCV001478585 uncertain significance not specified 2021-01-14 criteria provided, single submitter clinical testing Variant summary: BRAF c.826G>C (p.Val276Leu) results in a conservative amino acid change located in the Protein kinase C-like, phorbol ester/diacylglycerol-binding domain (IPR002219) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251098 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.826G>C in individuals affected with Cardiofaciocutaneous Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic without evidence for independent evaluation. As a de-novo mode of inheritance has not been ruled out at our laboratory, based on the evidence outlined above, the variant was classified as uncertain significance.

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