ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter)

dbSNP: rs774833271
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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 RCV002007377 SCV002234431 pathogenic not provided 2022-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr135*) in the MPV17 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPV17 are known to be pathogenic (PMID: 23714749). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451738). This variant has not been reported in the literature in individuals affected with MPV17-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003471121 SCV004193765 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2022-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025513 SCV005655950 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Charcot-Marie-Tooth disease, axonal, type 2EE 2024-05-31 criteria provided, single submitter clinical testing

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