ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) (rs797045795)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194018 SCV000248270 uncertain significance not specified 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000194018 SCV000491586 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing The S106L variant in the NRAS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S106L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S106L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S106L as a variant of uncertain significance,
GenomeConnect, ClinGen RCV000709916 SCV000840258 not provided Noonan syndrome 6 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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