ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.619del (p.Arg207fs)

dbSNP: rs2067885544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212666 SCV001384258 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EMD protein in which other variant(s) (p.Pro208Leufs*29, p.Trp226*) have been determined to be pathogenic (PMID: 8589715, 8595407, 9195226, 15967842). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 942643). This premature translational stop signal has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 18646565, 21520333, 33124102). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg207Glyfs*30) in the EMD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the EMD protein.

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