ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) (rs764530865)

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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 RCV000217551 SCV000271907 uncertain significance not specified 2017-08-04 criteria provided, single submitter clinical testing The p.Ala339Gly variant in LDB3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/15204 African chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of the p.Ala339Gly v ariant is uncertain.

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