ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.619C>T (p.Gln207Ter) (rs1085307888)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490224 SCV000577601 likely pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing The Gln207Stop likely pathogenic variant in the LMNA gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. Additionally, the Gln207Stop 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. Gln207Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LMNA gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014).While the Gln207Stop variant has not been published, it is expected to be pathogenic, However, other genetic and environmental factors influence disease expression and severity, and some individuals with a likely pathogenic variant may never become symptomatic.

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