Submissions for variant m.7512T>C

dbSNP: rs199474817

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000850907	SCV000993141	pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	2019-07-12	criteria provided, single submitter	clinical testing	The NC_012920.1:m.7512T>C variant in MT-TS1 gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5, PP3
Mendelics	RCV002247286	SCV002517729	pathogenic	Cytochrome-c oxidase deficiency disease	2022-05-04	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV000010174	SCV002562247	likely pathogenic	MERRF/MELAS overlap syndrome	2022-06-30	criteria provided, single submitter	clinical testing	VAF 50% heteroplasmy in blood, several affected family members
OMIM	RCV000010174	SCV000030395	pathogenic	MERRF/MELAS overlap syndrome	1998-11-01	no assertion criteria provided	literature only
OMIM	RCV000010175	SCV000030396	pathogenic	Mitochondrial cytochrome c oxidase deficiency	1998-11-01	no assertion criteria provided	literature only
GeneReviews	RCV000850907	SCV004042621	not provided	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		no assertion provided	literature only