ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)

gnomAD frequency: 0.00001  dbSNP: rs989552169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536868 SCV000651951 pathogenic MEGF10-related myopathy 2023-09-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 472740). This sequence change creates a premature translational stop signal (p.Arg1056*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003222034 SCV003918734 likely pathogenic not provided 2023-04-09 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV000536868 SCV004041090 uncertain significance MEGF10-related myopathy 2023-03-17 criteria provided, single submitter clinical testing

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