MitoTIP Sub-Scoring for Variant 12316A

MitoTIP Scoring Details

rCRS Position	rCRS NT	Query NT	Numerical Scores				Percentile	Status
			Variant Hx and Conservation	Variant Location	2° Structure	Prediction
12316	G	A	10.279	2.034	5.267	17.579	83.70%	confirmed pathogenic *

* Additional lines of evidence led to confirmation of pathogenicity for this tRNA variant. Examples of factors supporting confirmation of pathogencity: determination of heteroplasmy levels; correlation of heteroplasmy with phenotype; presence of variant in multiple unrelated affected families; functional cybrid studies; tRNA steady state levels; single fiber studies.

GenBank Frequency Information

L lineages African	M lineages Asian	N lineages Eurasian	Highest hg lineage(s)
0.00% ( 0 / 6836 )	0.00% ( 0 / 12945 )	0.00% ( 0 / 42735 )	NA