ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)

gnomAD frequency: 0.00001  dbSNP: rs200104745
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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 RCV002032246 SCV002312153 likely benign Noonan syndrome 9 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352773 SCV002620221 uncertain significance Cardiovascular phenotype 2022-09-19 criteria provided, single submitter clinical testing The p.R1272H variant (also known as c.3815G>A), located in coding exon 23 of the SOS2 gene, results from a G to A substitution at nucleotide position 3815. The arginine at codon 1272 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002032246 SCV002762970 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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