ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1741A>C (p.Asn581His)

dbSNP: rs180177040
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363294 SCV001559400 uncertain significance RASopathy 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003390750 SCV004110447 pathogenic BRAF-related condition 2022-12-21 criteria provided, single submitter clinical testing The BRAF c.1741A>C variant is predicted to result in the amino acid substitution p.Asn581His. This variant was reported as de novo in a patient with nonimmune hydrops fetalis (Sparks et al. 2020. PubMed ID: 33027564). A different variant at this position (p.Asn581Asp) has been reported in at least at least 14 individuals with cardio-facio-cutaneous syndrome, including at least 3 de novo events (Table S1, Rodriguez-Viciana et al. 2006. PubMed ID: 16439621; Niihori et al. 2006. PubMed ID: 16474404; Yoon et al. 2007. PubMed ID: 18039235; Schulz et al. 2007. PubMed ID: 18042262; Nava et al. 2007. PubMed ID: 17704260; Pierpont et al. 2010. PubMed ID: 20186801; Hazan et al. 2012. PubMed ID: 22876591; Quaio et al. 2013. PubMed ID: 24037001; Ciara et al. 2015. PubMed ID: 25463315; Table S3 - Leach et al. 2018. PubMed ID: 29907801). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
Database of Curated Mutations (DoCM) RCV000433029 SCV000505851 likely pathogenic Ovarian serous cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439352 SCV000505852 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422257 SCV000505853 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431645 SCV000505854 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441971 SCV000505855 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425037 SCV000505856 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only

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