ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.234G>C (p.Lys78Asn) (rs727505038)

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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 RCV000156465 SCV000206184 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The p.Lys78Asn variant in LMNA has been identified in 1 individual with DCM and atrial fibrillation (LMM data) and was absent from large population studies. Com putational prediction tools and conservation analysis suggest that the variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. In summary, the clinical significance of this variant is unc ertain. ACMG/AMP Criteria applied: PM2, PP3, PP4.

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