ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)

dbSNP: rs200938111
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000855704 SCV000998870 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2019-08-13 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Mitochondrial DNA depletion syndrome 6, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PP1, PM3, PM1-supporting, PS3-supporting.
GeneDx RCV002272375 SCV002558127 pathogenic not provided 2019-11-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29282788, 24321534, 21996136, 23714749, 22106832, 24894789, 28776642, 34426522)
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV000855704 SCV002574955 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2022-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002272375 SCV004292106 pathogenic not provided 2023-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 694362). This missense change has been observed in individuals with mitochondrial DNA depletion syndrome (PMID: 23714749, 28776642). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 93 of the MPV17 protein (p.Gln93Pro).
Institute of Human Genetics, University of Leipzig Medical Center RCV000855704 SCV005368223 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2024-06-03 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2,PM3,PP3,PP4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000855704 SCV001469169 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2020-02-05 no assertion criteria provided clinical testing
GeneReviews RCV000855704 SCV002567996 not provided Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) no assertion provided literature only

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