ClinVar Miner

Submissions for variant NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) (rs1553974835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Laboratory,Shanghai Chest Hospital, Shanghai Jiao Tong University RCV000656722 SCV000777905 pathogenic Dilated cardiomyopathy 1A 2018-05-29 criteria provided, single submitter case-control The p.Glu67* variant in HAND2 was identified in 1 Chinese family with autosomal dominant dilated cardiomyopathy, segregated with the disease with complete penetrance, and was absent from the 300 healthy controls. Additionally, in vitro functional studies indicated that the p.Glu67* variant disrupted normal transcriptional function. In summary, the p.Glu67* variant meets our criteria to be classified as pathogenic (www.partners.org/personalizedmedicine/lmm) based upon segregation studies, absence from controls, and functional evidence.

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