ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002428922 SCV002742214 uncertain significance Cardiovascular phenotype 2022-09-28 criteria provided, single submitter clinical testing The p.T37I variant (also known as c.110C>T), located in coding exon 2 of the SOS2 gene, results from a C to T substitution at nucleotide position 110. The threonine at codon 37 is replaced by isoleucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102110 SCV002966170 likely benign Noonan syndrome 9 2022-07-25 criteria provided, single submitter clinical testing

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