ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.503C>T (p.Ala168Val)

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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 RCV002335657 SCV002644380 uncertain significance Cardiovascular phenotype 2022-03-30 criteria provided, single submitter clinical testing The p.A168V variant (also known as c.503C>T), located in coding exon 4 of the SOS2 gene, results from a C to T substitution at nucleotide position 503. The alanine at codon 168 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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 RCV003096582 SCV003449957 likely benign Noonan syndrome 9 2024-10-29 criteria provided, single submitter clinical testing

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