ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) (rs397507484)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000444564 SCV000505838 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425098 SCV000505839 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434946 SCV000505840 likely pathogenic Neoplasm of the thyroid gland 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417689 SCV000505841 likely pathogenic Chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431024 SCV000505842 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438200 SCV000505843 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420107 SCV000505844 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037939 SCV000061604 pathogenic Noonan syndrome; Cardio-facio-cutaneous syndrome 2014-07-16 no assertion criteria provided clinical testing The Lys601Thr variant in BRAF has been reported in four individuals with clinica l features of Noonan syndrome and Cardio-facio-cutaneous (CFC) syndrome (Abe 201 2, LMM unpublished data). Parental testing showed that this variant occurred de novo in one of these individuals (LMM unpublished data). This variant was absent from large population studies. Different amino acid changes at this location ha ve been identified in affected individuals; the Lys601Gln was identified as a de novo variant in two individuals with clinical features of CFC syndrome (Sarkozy 2009) and the Lys601Ile variant was identified in one individual with clinical features of CFC syndrome (Lepri 2014), suggesting that changes at this position are not tolerated. Additionally, computational prediction tools and evolutionary conservation analysis suggest that the Lys601Thr variant may impact the protein . In summary, the Lys601Thr variant meets our criteria to be classified as patho genic (http://pcpgm.partners.org/LMM).

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