ClinVar Miner

Submissions for variant NM_007289.4(MME):c.1153C>T (p.Arg385Ter)

gnomAD frequency: 0.00003  dbSNP: rs772217958
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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 RCV001878688 SCV002122793 pathogenic not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg385*) in the MME gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MME are known to be pathogenic (PMID: 26991897). This variant is present in population databases (rs772217958, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MME-related conditions. ClinVar contains an entry for this variant (Variation ID: 1358707). For these reasons, this variant has been classified as Pathogenic.

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