ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1058A>G (p.His353Arg)

dbSNP: rs1802306841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070490 SCV001235737 uncertain significance RASopathy 2023-04-06 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: 863508). This variant has not been reported in the literature in individuals affected with BRAF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 353 of the BRAF protein (p.His353Arg).

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