ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)

dbSNP: rs753151750
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486673 SCV000570367 likely benign not provided 2019-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652813 SCV000774685 likely benign Noonan syndrome 9 2023-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455928 SCV002613364 uncertain significance Cardiovascular phenotype 2024-10-08 criteria provided, single submitter clinical testing The p.A1195V variant (also known as c.3584C>T), located in coding exon 23 of the SOS2 gene, results from a C to T substitution at nucleotide position 3584. The alanine at codon 1195 is replaced by valine, 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.
CeGaT Center for Human Genetics Tuebingen RCV000486673 SCV004134076 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SOS2: BP4

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