ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)

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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 RCV002996789 SCV003314766 likely benign Noonan syndrome 9 2024-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003308422 SCV003996301 uncertain significance Cardiovascular phenotype 2023-03-16 criteria provided, single submitter clinical testing The p.T654I variant (also known as c.1961C>T), located in coding exon 12 of the SOS2 gene, results from a C to T substitution at nucleotide position 1961. The threonine at codon 654 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.

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