ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) (rs397516893)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037922 SCV000061585 likely pathogenic Cardio-facio-cutaneous syndrome 2012-04-13 criteria provided, single submitter clinical testing The Val487Gly variant in BRAF has been identified in one individual with Cardio- Facio-Cutaneous (CFC) syndrome and was absent in 210 Caucasian control chromosom es (Narumi 2007). Valine (Val) at position 487 is highly conserved across evolut ionarily distant species, increasing the likelihood that the change would not be tolerated. Computational analyses (biochemical amino acid properties, conservat ion, AlignGVGD, PolyPhen2 and SIFT) suggest that the Val487Gly variant may impac t the protein, though this information is not predictive enough to determine pat hogenicity. In summary, this variant is likely to be pathogenic, though segregat ion studies and functional analyses are required to fully establish the pathogen icity of this variant.
Ambry Genetics RCV000622585 SCV000740925 pathogenic Inborn genetic diseases 2015-05-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Blueprint Genetics RCV000788814 SCV000928070 pathogenic not provided 2018-11-21 criteria provided, single submitter clinical testing

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