ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1885G>T (p.Ala629Ser)

gnomAD frequency: 0.00001  dbSNP: rs1243841152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071641 SCV001236954 likely benign RASopathy 2023-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411622 SCV002722442 uncertain significance Cardiovascular phenotype 2020-12-31 criteria provided, single submitter clinical testing The p.A629S variant (also known as c.1885G>T), located in coding exon 16 of the RAF1 gene, results from a G to T substitution at nucleotide position 1885. The alanine at codon 629 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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