ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.1A>G (p.Met1Val) (rs267606782)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254894 SCV000321602 pathogenic not provided 2016-04-22 criteria provided, single submitter clinical testing The c.1 A>G variant in the EMD gene has been reported in association with X-linked Emery-Dreifuss muscular dystrophy (EDMD) (Bione et al., 1994; Brown et al., 2011). This variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. Other variants altering the initiator Methionine codon (c.2T>C, c.2T>G, c.3G>A) have been reported in HGMD in association with EDMD (Stenson P et al., 2014) and protein studies have shown that c.2T>C and c.2T>G result in a lack of emerin protein expression (Yates et al., 1999; Manilal et al. 1998). Furthermore, the c.1 A>G variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, we interpret c.1 A>G in the EMD gene as pathogenic."
Invitae RCV000802953 SCV000942804 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2019-06-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the EMD mRNA. The next in-frame methionine is located at codon 73. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a several individuals affected with Emery-Dreifuss muscular dystrophy (PMID: 7894480, 19997654, 21697856). ClinVar contains an entry for this variant (Variation ID: 11172). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011922 SCV000032155 pathogenic Emery-Dreifuss muscular dystrophy, X-linked 1994-12-01 no assertion criteria provided literature only

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