ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr)

gnomAD frequency: 0.00001  dbSNP: rs753283972
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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 RCV002031753 SCV002312508 likely benign Noonan syndrome 9 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044851 SCV005025574 uncertain significance Cardiovascular phenotype 2024-01-16 criteria provided, single submitter clinical testing The p.N198Y variant (also known as c.592A>T), located in coding exon 5 of the SOS2 gene, results from an A to T substitution at nucleotide position 592. The asparagine at codon 198 is replaced by tyrosine, an amino acid with dissimilar 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.

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