ClinVar Miner

Submissions for variant NM_007289.4(MME):c.877C>T (p.Arg293Ter)

gnomAD frequency: 0.00001  dbSNP: rs764060752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523684 SCV000619854 likely pathogenic not provided 2021-04-20 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; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000523684 SCV002942812 pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs764060752, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg293*) 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 has not been reported in the literature in individuals affected with MME-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 451188).

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