ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln)

dbSNP: rs397507474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703444 SCV000057215 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located within protein kinase domain;ATP binding site (PMID: 19624854); This variant is associated with the following publications: (PMID: 26918529, 19624854, 33839364, 34625582, 29696744)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150208 SCV000197151 likely pathogenic Cardio-facio-cutaneous syndrome 2014-04-02 criteria provided, single submitter clinical testing The Lys483Gln variant in BRAF has been identified in one proband with clinical f eatures of Cardio-facio-cutaneous syndrome, and was not identified in either of this individual's parents (LMM unpublished data). This variant has not been iden tified in large population studies. In addition, another variant at the same res idue (Lys483Asn) was identified as a de novo variant in an individual with featu res of a Noonan spectrum disorder (LMM unpublished data). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIF T) suggest that the Lys483Gln variant may impact the normal function of the prot ein. In summary, this variant is likely pathogenic, though additional studies ar e required to fully establish its clinical significance.
GenomeConnect - CFC International RCV000150208 SCV002047663 not provided Cardio-facio-cutaneous syndrome no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 04-02-2014 by lab or GTR ID 21766. GenomeConnect - CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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