ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.449C>T (p.Thr150Ile) (rs869069617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220590 SCV000271925 uncertain significance not specified 2015-04-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Thr150Ile variant in LMNA has been previously reported in 1 individual with DCM (Hirtle-L ewis 2013) and was absent from large population studies. In addition, another di sease-causing variant at this position (p.Thr150Pro) has been reported in 2 indi viduals with Emery-Dreifuss muscular dystrophy with conduction system disease (F elice 2000, Schamer 2011) and was identified by our laboratory in 4 family membe rs with clinical features of LMNA-related cardiomyopathy (DCM, muscle weakness, and/or conduction system disease; LMM unpublished data), suggesting that a chang e at this position may not be tolerated. Computational prediction tools and cons ervation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, whi le there is some suspicion for a pathogenic role, the clinical significance of t he p.Thr150Ile variant is uncertain.

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