Viewing single variant in MT-ATP6

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-ATP6:m.8672T>C (p.Leu49Pro)

Tutor Research

Nomenclaturem.8672T>Cp.Leu49ProchrMT:8672|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

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not loaded

SIFT

deleterious_low_confidence (0)

PolyPhen

probably_damaging (0.998)

ESM1b

-12.18

Tutor Research

MITOMAPReported

Live entry

Disease: Lntrauterine growth retardation+truncal hypotonia+microcephaly+developmental delay+left ventricular noncompaction+WPWReported as: heteroplasmicGenBank: 0 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

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proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

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AATCACCACCCAACAATGACTAATCAAACTAACCTCAAAAC

MT-ATP6

m.8652–8692 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.8672 T→C.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.