ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) (rs61046466)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041328 SCV000065021 pathogenic Primary dilated cardiomyopathy 2011-06-02 criteria provided, single submitter clinical testing The Gln6X variant has been reported in one large family with Emery-Dreifuss musc ular dystrophy. It segregated with disease in 17 affected members and was absent from 300 control chromosomes. Of note, the majority of individuals presented wi th cardiomyopathy only (Becane 2000, Bonne 1999). This variant leads to a prema ture stop at codon 6 and is predicted to lead to a truncated or absent protein, which is consistent with protein expression studies (Becane 2000). In summary, this variant meets our criteria for pathogenicity (http://pcpgm.partners.org/LMM ) based upon the severity of the change, segregation studies and absence from co ntrol chromosomes.
OMIM RCV000015564 SCV000035829 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1999-03-01 no assertion criteria provided literature only
GeneReviews RCV000015564 SCV000041602 pathologic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2011-04-05 no assertion criteria provided curation Converted during submission to Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057350 SCV000088463 not provided not provided no assertion provided not provided

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