ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) (rs397516894)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037928 SCV000061592 pathogenic Cardio-facio-cutaneous syndrome 2013-04-02 criteria provided, single submitter clinical testing The His574Tyr variant in BRAF has not been reported in the literature nor previo usly identified by our laboratory. This variant was not identified in either par ent of this individual and therefore likely occurred de novo, assuming that non- medical explanations including alternate paternity or undisclosed adoption have been ruled out. In addition, this variant has not been identified in large popul ations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid properties, conservation, AlignG VGD, PolyPhen2, and SIFT) suggest that the variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. Given th e de novo occurrence of this variant in a proband with clinical features of Card io-facio-cutaneous syndrome, this variant is highly likely to be pathogenic. In summary, this variant meets our criteria to be classified as pathogenic (http:// pcpgm.partners.org/LMM).

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