ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)

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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 RCV002994910 SCV003300531 likely benign Noonan syndrome 9 2023-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003308409 SCV003996313 uncertain significance Cardiovascular phenotype 2023-05-15 criteria provided, single submitter clinical testing The p.T1254M variant (also known as c.3761C>T), located in coding exon 23 of the SOS2 gene, results from a C to T substitution at nucleotide position 3761. The threonine at codon 1254 is replaced by methionine, 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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