ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.451dup (p.Leu151fs) (rs267607267)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000031912 SCV000267399 uncertain significance Navajo neurohepatopathy 2016-03-18 criteria provided, single submitter reference population
Invitae RCV001390941 SCV001592844 pathogenic not provided 2020-01-31 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 acids of the MPV17 protein and extend the protein by an additional 12 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mitochondrial DNA depletion syndrome (PMID: 29282788, 27536553). ClinVar contains an entry for this variant (Variation ID: 38356). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000031912 SCV000054548 pathologic Navajo neurohepatopathy 2012-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.

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