ClinVar Miner

Submissions for variant NM_001927.4(DES):c.735+1G>C (rs397516698)

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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 RCV000150381 SCV000197523 likely pathogenic Myofibrillar myopathy 1 2014-03-05 criteria provided, single submitter clinical testing The 735+1G>C variant in DES has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant occurs in the invar iant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Another variant at t his position (735+1G>A) has been reported in 2 individuals with desminopathy (Re ported as IVS3+1G>A: Gudkova 2013 and Shatunov et al., unpublished data, reviewe d by Goldfarb 2004) and identified by our laboratory as a de novo occurrence in 1 individual with desminopathy. In summary, the 735+1G>C variant is likely patho genic, though additional studies are required to fully establish its clinical si gnificance.

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