ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.873A>G (p.Ser291=)

gnomAD frequency: 0.00002  dbSNP: rs139135606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436760 SCV000520249 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062394 SCV002334952 likely benign RASopathy 2023-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984870 SCV005485526 uncertain significance Cardiovascular phenotype 2024-11-18 criteria provided, single submitter clinical testing The c.873A>G variant (also known as p.S291S), located in coding exon 8 of the RAF1 gene, results from an A to G substitution at nucleotide position 873. This nucleotide substitution does not change the serine at codon 291. This variant has been reported in individual(s) in a neuro-cardio-facio-cutaneous syndrome cohort, but clinical details were limited (Justino A et al. Eur J Hum Genet, 2015 Mar;23:347-53). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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