ClinVar Miner

Submissions for variant m.7468C>T

dbSNP: rs111033173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850887 SCV000993121 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.7468C>T variant in MT-TS1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4
Athena Diagnostics Inc RCV000992384 SCV001144613 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035049 SCV000058689 uncertain significance not specified 2009-04-30 no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000035049 SCV000280202 uncertain significance not specified 2013-02-07 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MTTS1 m.7468C>T With the information available at this time, it is not possible to determine whether this is a disease-causing mutation or a benign rare variant. The variant m.7468 C>T in the gene MTTS1 has not been reported in Mitomap (mitomap.org) as a mutation or as a benign polymorphism, and it has been seen very infrequently in the general population: 0 of 2704 individuals in mtDB (genpat.uu.se/mtDB), 0 of 3735 MitoWheel (http://mitowheel.org/mitowheel.html). It is located at the T-stem of the MT-tRNA Ser 1 and changes a G-T wobble base pair to an A:T Watson-Crick base pair, which may affect the secondary structure of the MT-tRNA Ser 1. This change occurs at a position that is conserved in 119 of 136 mammal species, but in the other mammal species an A:T Watson-Crick base pair is observed at this position.

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