ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)

dbSNP: rs869025340
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000207510 SCV000263067 likely pathogenic not provided 2015-07-22 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000207510 SCV000920479 pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000207510 SCV001776362 likely pathogenic not provided 2020-09-21 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 17551924, 33482860, 24803665, 23093928, 19206169, 26150740, 24458522)
Institute of Human Genetics, University of Leipzig Medical Center RCV001781616 SCV002026341 pathogenic Noonan syndrome 7 2021-10-25 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2, PM5_STR, PS4_MOD, PM1, PM2_SUP, PP3

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