Submissions for variant NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV003340827	SCV004047585	likely pathogenic	Emery-Dreifuss muscular dystrophy 1, X-linked		criteria provided, single submitter	clinical testing	The c.282C>G (p.Tyr94Ter) stop gained variant in EMD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.282C>G variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003523160	SCV004299696	pathogenic	X-linked Emery-Dreifuss muscular dystrophy	2023-03-16	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 10382909). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr94*) 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).