ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.845C>T (p.Thr282Met) (rs199811186)

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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 RCV000155800 SCV000205511 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing The p.Thr282Met variant in LDB3 has been identified by our laboratory in 1 adult with DCM and atrial fibrillation, who also carried a likely pathogenic variant in a different gene. This variant has been identified in 2/10330 African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199811186). Computational prediction tools and conservation analysis sug gest that this variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Thr282Met variant is uncertain.

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