Table 4 Likely pathogenic novel mt-tRNA variants.

Position	Gene	Nucleotide change	MitoTIP score	Location	Previous classification	Added criteria by our case	Criteria
578	MT-TF	T>C	16.6	AS	Novel	PM2, PM9, PP6	PM2, PM7, PM9, PP6
4372	MT-TQ	C>T	15.8	ACS	Novel	PM2 PM9, PP6	PM2 PM9, PP3, PP6
4437	MT-TM	C>T	15	ACS	Novel	PM2, PM9, PM10, PP6	PM2, PM9, PM10, PP3, PP6
5889	MT-TY	A>G	14.9	AS	Novel	PM2, PM8, PM9, PP6	PM2, PM8, PM9, PP3, PP6
7566	MT-TD	G>A	14.8	TS	Novel	PM2, PM9, PP6	PM2, PM9, PP3, PP6
8319	MT-TK	A>G	15.4	ACS	Novel	PM2, PM9, PP6	PM2, PM9, PP3, PP6
10408	MT-TR	T>C	14.5	AS	Novel	PM8, PM10, PP6, PP7	PM8, PM10, PP3, PP6, PP7
10460	MT-TR	T>C	15.9	TS	Novel	PM2, PM9, PP4	PM2, PM9, PP3, PP4
12258	MT-TS2	C>T	17.2	AS	Novel	PM5, PP6, PP7	PM5, PM7, PP6, PP7
12335	MT-TL2	T>C	13.6	AS	Novel	PM8, PM9, PP7	PM8, PM9, PP3, PP7

ACL anticodon loop,ACS anticodon stem, AS acceptor stem, B benign, C1 connector 1, C2 connector 2, DB discriminator base, DL D loop, DS D stem, LB likely benign, LP likely pathogenic, mt-tRNA mitochondrial transfer RNA,P pathogenic, TL T loop, TS T stem, VR variable region, VUS variant of uncertain significance.

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