ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln)

gnomAD frequency: 0.00004  dbSNP: rs769329817
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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 RCV001866914 SCV002121799 likely benign Noonan syndrome 9 2023-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039022 SCV003552344 uncertain significance Cardiovascular phenotype 2024-03-21 criteria provided, single submitter clinical testing The p.E1225Q variant (also known as c.3673G>C), located in coding exon 23 of the SOS2 gene, results from a G to C substitution at nucleotide position 3673. The glutamic acid at codon 1225 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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