ClinVar Miner

Submissions for variant NM_007289.4(MME):c.298del (p.Thr100fs)

gnomAD frequency: 0.00001  dbSNP: rs753679568
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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 RCV001993132 SCV002236397 pathogenic not provided 2024-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr100Profs*11) 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 (rs753679568, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of MME-related conditions (PMID: 27588448). ClinVar contains an entry for this variant (Variation ID: 1451159). For these reasons, this variant has been classified as Pathogenic.

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