ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.410T>C (p.Leu137Pro) (rs879254302)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235903 SCV000294129 uncertain significance not specified 2016-04-26 criteria provided, single submitter clinical testing The L137P variant has not been publishedas a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The L137P variant is a semi-conservativeamino 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, and multiple missense variants in nearbyresidues have been reported in the Human Gene Mutation Database in association with LMNA-related disorders(Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predictsthis variant is probably damaging to the protein structure/function.

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