ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1798A>G (p.Ile600Val)

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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 RCV002624837 SCV003518428 likely benign RASopathy 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294588 SCV003998991 uncertain significance Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.I600V variant (also known as c.1798A>G), located in coding exon 10 of the SOS1 gene, results from an A to G substitution at nucleotide position 1798. The isoleucine at codon 600 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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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