ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser)

dbSNP: rs576041742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619923 SCV000739922 uncertain significance Cardiovascular phenotype 2024-05-01 criteria provided, single submitter clinical testing The p.Y38S variant (also known as c.113A>C), located in coding exon 1 of the RAF1 gene, results from an A to C substitution at nucleotide position 113. The tyrosine at codon 38 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000811009 SCV000951252 likely benign RASopathy 2023-10-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813531 SCV002060853 uncertain significance Noonan syndrome and Noonan-related syndrome 2021-02-22 criteria provided, single submitter clinical testing

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