ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1722C>G (p.His574Gln) (rs397507481)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033328 SCV000057233 pathogenic not provided 2013-12-05 criteria provided, single submitter clinical testing p.His574Gln (CAC>CAG): c.1722 C>G in exon 14 of the BRAF gene (NM_004333.4). The H574Q missense mutation has not been previously reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The H574Q mutation is a non-conservative amino acid substitution with a positively-charged residue (His) being replaced by a neutral residue (Gln) at a position that is highly conserved across species. Two other missense mutations in neighboring codons (N580D and N581D) have previously been reported in association with Cardio-Facio-Cutaneous syndrome (Niihori et al., 2006 and Narumi et al., 2007). The H574Q mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, H574Q is considered to be a disease-causing mutation. The variant is found in NOONAN panel(s).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000677114 SCV000803185 pathogenic Cardiofaciocutaneous syndrome 1 2018-05-22 criteria provided, single submitter research
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824924 SCV000965956 likely pathogenic Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing

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