ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.815del (p.Arg272fs)

dbSNP: rs2126934788
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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 RCV002007533 SCV002230565 pathogenic MEGF10-related myopathy 2024-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg272Profs*64) 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. ClinVar contains an entry for this variant (Variation ID: 1452067). For these reasons, this variant has been classified as Pathogenic.

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