ClinVar Miner

Submissions for variant NM_007289.4(MME):c.2050C>T (p.Gln684Ter)

dbSNP: rs200678412
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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 RCV001859360 SCV002150583 pathogenic not provided 2024-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln684*) 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 (rs200678412, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 33144514). ClinVar contains an entry for this variant (Variation ID: 1184498). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001859360 SCV003923344 likely pathogenic not provided 2022-11-08 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; This variant is associated with the following publications: (PMID: 34758253, 33144514)
Genomics England Pilot Project, Genomics England RCV001542568 SCV001760111 likely pathogenic Charcot-Marie-Tooth disease axonal type 2T no assertion criteria provided clinical testing

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