ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)

gnomAD frequency: 0.00003  dbSNP: rs776000121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000261274 SCV000330877 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001855076 SCV002248960 likely benign Noonan syndrome 9 2023-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436096 SCV002751172 uncertain significance Cardiovascular phenotype 2021-10-13 criteria provided, single submitter clinical testing The p.N993I variant (also known as c.2978A>T), located in coding exon 19 of the SOS2 gene, results from an A to T substitution at nucleotide position 2978. The asparagine at codon 993 is replaced by isoleucine, 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.

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