ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2545G>A (p.Val849Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455806 SCV002740113 uncertain significance Cardiovascular phenotype 2022-09-16 criteria provided, single submitter clinical testing The p.V849I variant (also known as c.2545G>A), located in coding exon 16 of the SOS1 gene, results from a G to A substitution at nucleotide position 2545. The valine at codon 849 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101951 SCV003261822 likely benign RASopathy 2023-12-21 criteria provided, single submitter clinical testing

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