ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.196G>T (p.Val66Leu)

gnomAD frequency: 0.00001  dbSNP: rs863224073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200118 SCV000251742 uncertain significance not provided 2015-02-13 criteria provided, single submitter clinical testing p.Val66Leu (GTA>TTA): c.196 G>T in exon 4 of the MPV17 gene (NM_002437.4) The V66L variant of unknown significance identified in the MPV17 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V66L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is moderately conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. A missense mutation in a nearby residue (P64R) has been reported in association with mitochondrial DNA depletion syndrome supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV003227470 SCV002076541 uncertain significance Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 2021-07-21 no assertion criteria provided clinical testing

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