ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.735A>G (p.Ile245Met)

dbSNP: rs2124597094
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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 RCV001919771 SCV002165560 uncertain significance RASopathy 2022-07-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1395675). This variant has not been reported in the literature in individuals affected with SOS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 245 of the SOS1 protein (p.Ile245Met).
Ambry Genetics RCV004041568 SCV005023788 uncertain significance Cardiovascular phenotype 2024-02-09 criteria provided, single submitter clinical testing The p.I245M variant (also known as c.735A>G), located in coding exon 6 of the SOS1 gene, results from an A to G substitution at nucleotide position 735. The isoleucine at codon 245 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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