ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.364G>A (p.Val122Met)

gnomAD frequency: 0.00002  dbSNP: rs1208838203
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307479 SCV001496894 likely benign Noonan syndrome 9 2024-12-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813589 SCV002060912 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456395 SCV002613850 uncertain significance Cardiovascular phenotype 2022-05-09 criteria provided, single submitter clinical testing The p.V122M variant (also known as c.364G>A), located in coding exon 4 of the SOS2 gene, results from a G to A substitution at nucleotide position 364. The valine at codon 122 is replaced by methionine, 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 RCV001307479 SCV002763140 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing

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