ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.83-2A>G (rs727504901)

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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 RCV000156286 SCV000206004 likely pathogenic Neuromuscular Diseases 2014-02-17 criteria provided, single submitter clinical testing The 83-2A>G variant in EMD has been reported in 1 individual with X-linked Emery -Dreifuss muscular dystrophy (Astejada 2007), and was not identified in large po pulation studies. A different variant at this same position (83-2A>C) was report ed in 1 individual with Emery-Dreifuss muscular dystrophy, suggesting that a cha nge at this position might not be tolerated (Bione 1995). This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicte d to cause altered splicing leading to an abnormal or absent protein. In summary , this variant is likely to be pathogenic, though additional studies are require d to fully establish its clinical significance.

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