ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.107A>C (p.Gln36Pro)

dbSNP: rs762327729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000855707 SCV000998881 uncertain significance Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2019-08-13 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Mitochondrial DNA depletion syndrome 6, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3-supporting.
Neuberg Centre For Genomic Medicine, NCGM RCV000855707 SCV004101547 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) criteria provided, single submitter clinical testing The c.107A>C (p.Gln36Pro) missense variant in MPV17 gene has been reported in multiple patients affected with Mitochondrial DNA (mtDNA) depletion syndromes (Uusimaa et al., 2014). This variant is reported with the allele frequency (0.0003%) in the gnomAD and novel in 1000 genome database. This variant has been reported to the ClinVar database as Variant of Uncertain Significance. The amino acid Gln at position 36 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gln36Pro in MPV17 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic. The above variant was also detected in the spouse.

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