ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)

gnomAD frequency: 0.00004  dbSNP: rs1391029692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050438 SCV001214545 likely benign Noonan syndrome 9 2024-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416379 SCV002719008 uncertain significance Cardiovascular phenotype 2024-03-02 criteria provided, single submitter clinical testing The p.L659S variant (also known as c.1976T>C), located in coding exon 12 of the SOS2 gene, results from a T to C substitution at nucleotide position 1976. The leucine at codon 659 is replaced by serine, an amino acid with dissimilar 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.
Genome-Nilou Lab RCV001050438 SCV002763060 uncertain significance Noonan syndrome 9 criteria provided, single submitter clinical testing
GeneDx RCV005250127 SCV005901500 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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