ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) (rs397507474)

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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 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f eatures of Cardio-facio-cutaneous syndrome, and was not identified in either of this individual's parents (LMM unpublished data).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idue (Lys483Asn) was identified as a de novo variant in an individual with featu res of a Noonan spectrum disorder (LMM unpublished data).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.

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