ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) (rs1060502612)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458523 SCV000550246 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2016-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 41 (p.Tyr41*) of the EMD gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in EMD are known to be pathogenic (PMID: 19345147). In addition, a different nucleotide change at this position c.123C>G causing the same (p.Try41*) truncating effect on the protein has been reported in a patient affected with Emery-Dreifuss muscular dystrophy (PMID: 8595407). Note that the legacy nomenclature for this variant is c.356C>G. For these reasons, this variant has been classified as Pathogenic.

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