ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.451dup (p.Leu151fs)

dbSNP: rs267607267
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390941 SCV001592844 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MPV17 gene (p.Leu151Profs*39). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the MPV17 protein and extend the protein by 12 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individuals with mitochondrial DNA depletion syndrome (PMID: 27536553, 29282788). ClinVar contains an entry for this variant (Variation ID: 38356). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460536 SCV004193751 pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025086 SCV005655947 pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Charcot-Marie-Tooth disease, axonal, type 2EE 2024-02-22 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000031912 SCV000267399 uncertain significance Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2016-03-18 flagged submission reference population
Natera, Inc. RCV003227466 SCV002076535 pathogenic Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 2021-07-21 no assertion criteria provided clinical testing

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