ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1987A>G (p.Ile663Val)

dbSNP: rs730881024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159116 SCV000209060 likely benign not specified 2013-03-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002415453 SCV002718412 uncertain significance Cardiovascular phenotype 2021-07-30 criteria provided, single submitter clinical testing The p.I663V variant (also known as c.1987A>G), located in coding exon 12 of the SOS1 gene, results from an A to G substitution at nucleotide position 1987. The isoleucine at codon 663 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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