ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter)

dbSNP: rs200174116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413735 SCV000491026 likely pathogenic not provided 2016-08-09 criteria provided, single submitter clinical testing The E398X likely pathogenic variant in the MEGF10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E398X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret the E398X variant as a likely pathogenic variant,
Labcorp Genetics (formerly Invitae), Labcorp RCV003105889 SCV003782061 pathogenic MEGF10-related myopathy 2022-06-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu398*) in the MEGF10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEGF10 are known to be pathogenic (PMID: 22101682, 22371254, 23453856, 23954233). ClinVar contains an entry for this variant (Variation ID: 372648). For these reasons, this variant has been classified as Pathogenic.

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