ClinVar Miner

Submissions for variant NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)

dbSNP: rs1565799131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760966 SCV000890863 pathogenic Dermatofibrosis lenticularis disseminata 2018-05-18 criteria provided, single submitter clinical testing
GeneDx RCV003314642 SCV004014383 likely pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing Reported in a patient with features of a LEMD3-related disorder in the published literature (Hellemans et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 16470551, 35022528)

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