ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.572C>T (p.Pro191Leu) (rs72681869)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000272613 SCV000330851 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing The P191L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P191L variant was not observed in approximately 6,500 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 P191L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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