ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) (rs397507469)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212151 SCV000057193 pathogenic not provided 2013-05-07 criteria provided, single submitter clinical testing p.Gln257Lys (CAG>AAG): c.769 C>A in exon 6 of the BRAF gene (NM_004333.4). The Q257K mutation in the BRAF gene has been reported previously in association with Cardio-Facio- Cutaneous (CFC) Syndrome (Narumi et al., 2007; Aoki et al., 2008). The codon at which this missense mutation occurs is a hot spot" where the most common recurrent mutation in CFC identified thus far (Q257R) occurs. The variant is found in NOONAN panel(s)."
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000033288 SCV000061625 likely pathogenic Noonan syndrome; Cardio-facio-cutaneous syndrome 2015-01-02 criteria provided, single submitter clinical testing The p.Gln257Lys variant in BRAF has been reported in 2 individuals with clinical features of Cardio-facio-cutaneous syndrome (CFC, Narumi 2007, LMM unpublished data) and was absent from large population studies. In addition, another variant at this position (p.Gln257Arg) has been identified in >20 individuals with a RA Sopathy, suggesting that changes at this position are not tolerated. Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Gln257Lys variant is likely pathogenic.
Ambry Genetics RCV000624665 SCV000743058 likely pathogenic Inborn genetic diseases 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

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