ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.329G>C (p.Arg110Pro) (rs556237236)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182352 SCV000234665 likely pathogenic not provided 2013-05-07 criteria provided, single submitter clinical testing p.Arg110Pro (CGT>CCT); c.329G>C in exon 1 of the LMNA gene (NM_170707.2). The Arg110Pro variant in the LMNA gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg110Pro results in a non-conservative amino acid substitution of a positively-charged Arginine with a neutral, non-polar Proline at a position that is completely conserved across species. In silico analysis predicts Arg110Pro is damaging to the protein structure/function. Mutations in nearby residues (Leu102Pro, Gly125Ala) have been reported in association with limb girdle muscular dystrophy, further supporting the functional importance of this region of the protein. Furthermore, the Arg110Pro 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. Therefore, the Arg110Pro variant in the LMNA gene is a good candidate for a disease-causing mutation. The variant is found in DCM panel(s).

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