ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799408 SCV000939069 likely pathogenic Rasopathy 2019-01-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 366 of the BRAF protein (p.Ala366Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of Noonan syndrome with multiple lentigines (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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