ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)

dbSNP: rs121913348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807745 SCV002058273 likely pathogenic Cardiofaciocutaneous syndrome 1 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with BRAF related disorder (ClinVar ID: VCV000040365, PS1_P). Different missense changes at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000013964,VCV000040364,VCV000279992,VCV000372572, PM5_M). The variant is located in a well-established functional domain or exonic hotspot, where pathogenic variants have frequently reported (PM1_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.895, PP3_P). A missense variant is a common mechanism associated with Cardiofaciocutaneous syndrome (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000824917 SCV000965949 likely pathogenic Cardio-facio-cutaneous syndrome no assertion criteria provided clinical testing

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