ClinVar Miner

Submissions for variant NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)

dbSNP: rs1553603239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV002265839 SCV000660443 pathogenic Desmin-related myofibrillar myopathy 2016-10-11 no assertion criteria provided clinical testing The diagnosis of left ventricular noncompaction (LVNC) and neuromuscular disease (NMD) for the proband (22 y.o.) was established based on cardiac and neuromuscular symptoms. The diagnosis of desminopathy was established after detection of c.336_344del in DES gene. This variant segregates in the family, was also found in mother with similar symptoms. Proband had underwent heart transplantation due to terminal chronic heart failure. Clinical case was published originally in article (Blagova O.V., Nedostup A.V., Sedov V.P., Kogan E.A., Shestak A.G., Polyak M.E., Zaklyazminskaya E.V. Clin. Experiment. Surg. Petrovsky J. 2017; 5 (3): 34–48.)

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