ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.251_255del (p.Leu84fs)

dbSNP: rs782452523
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000498396 SCV000590855 pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000498396 SCV000701354 pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216679 SCV001388488 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2023-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu84Profs*7) in the EMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 9536090, 10382910, 21697856, 24375709, 25210889, 31645980). ClinVar contains an entry for this variant (Variation ID: 289486). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003492030 SCV003821371 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2022-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401269 SCV004120544 pathogenic EMD-related disorder 2023-04-25 criteria provided, single submitter clinical testing The EMD c.251_255del5 variant is predicted to result in a frameshift and premature protein termination (p.Leu84Profs*7). This variant has been reported in individuals with Emery-Dreifuss muscular dystrophy (Reported as delTCTAC in Manilal et al 1998. PubMed ID: 9536090; Dai X et al 2019. PubMed ID: 31645980). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in EMD are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV001216679 SCV000032163 pathogenic X-linked Emery-Dreifuss muscular dystrophy 1998-05-01 no assertion criteria provided literature only

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