ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) (rs763559779)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000286444 SCV000330448 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing The V98A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Furthermore, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nonetheless, the V98A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Ambry Genetics RCV000619047 SCV000740153 uncertain significance Cardiovascular phenotype 2017-05-10 criteria provided, single submitter clinical testing The p.V98A variant (also known as c.293T>C), located in coding exon 2 of the RAF1 gene, results from a T to C substitution at nucleotide position 293. The valine at codon 98 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261027 SCV001438425 likely benign Noonan syndrome no assertion criteria provided clinical testing

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