ClinVar Miner

Submissions for variant NM_007289.4(MME):c.594dup (p.Val199fs)

dbSNP: rs1254522989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196760 SCV001367393 pathogenic Spinocerebellar ataxia 43 2019-09-17 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM3,PP4. This variant was detected in homozygous state.
Labcorp Genetics (formerly Invitae), Labcorp RCV001876277 SCV002194150 pathogenic not provided 2024-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val199Serfs*4) 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 not present in population databases (gnomAD no frequency). 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: 930821). For these reasons, this variant has been classified as Pathogenic.

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