ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)

gnomAD frequency: 0.00004  dbSNP: rs759124324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322577 SCV001513454 likely benign Noonan syndrome 9 2023-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377404 SCV002623930 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The p.H1301R variant (also known as c.3902A>G), located in coding exon 23 of the SOS2 gene, results from an A to G substitution at nucleotide position 3902. The histidine at codon 1301 is replaced by arginine, 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.
Genome-Nilou Lab RCV001322577 SCV002762967 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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