ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.358G>A (p.Val120Ile)

gnomAD frequency: 0.00001  dbSNP: rs766748977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654944 SCV000776852 uncertain significance RASopathy 2023-03-18 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 performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt BRAF function. ClinVar contains an entry for this variant (Variation ID: 543981). This missense change has been observed in individual(s) with clinical features of BRAF-related conditions (Invitae). This variant is present in population databases (rs766748977, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 120 of the BRAF protein (p.Val120Ile).

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