ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1237G>A (p.Val413Met) (rs377093637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037910 SCV000061572 uncertain significance not specified 2011-10-20 criteria provided, single submitter clinical testing The Val413Met variant has not been reported in the literature nor identified by our laboratory in over 1,300 individuals. Valine (Val) at position 413 is highly conserved across evolutionarily distant species, suggesting that a change to th e amino acid may not be tolerated. Computational analyses (PolyPhen2, SIFT, Ali gnGVGD) do not provide strong support for or against pathogenicity; however, the accuracy of these tools is unknown. In the absence of additional information, s uch as control studies, segregation data, or functional analyses, the clinical s ignificance of this variant cannot be determined at this time.
Fulgent Genetics,Fulgent Genetics RCV000764690 SCV000895822 uncertain significance Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 2018-10-31 criteria provided, single submitter clinical testing

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