ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.265A>T (p.Met89Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547401 SCV005042973 uncertain significance Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) criteria provided, single submitter clinical testing The missense c.265A>Tp.Met89Leu variant in MPV17 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.005% in the gnomAD Exomes and novel in 1000 Genomes. The amino acid Met at position 89 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Met89Leu in MPV17 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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