ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1205C>A (p.Pro402His)

dbSNP: rs199927105
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852578 SCV000995279 uncertain significance Hypertrophic cardiomyopathy 2017-10-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813554 SCV002060711 uncertain significance Noonan syndrome and Noonan-related syndrome 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001858510 SCV002126916 uncertain significance RASopathy 2023-09-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRAF protein function. ClinVar contains an entry for this variant (Variation ID: 691718). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. This variant is present in population databases (rs199927105, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 402 of the BRAF protein (p.Pro402His).
Fulgent Genetics, Fulgent Genetics RCV002501183 SCV002814224 uncertain significance Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2022-05-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141868 SCV003828531 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261043 SCV001438444 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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