ClinVar Miner

Submissions for variant m.7493C>T

dbSNP: rs397515728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035054 SCV000058694 benign not specified 2015-10-10 criteria provided, single submitter clinical testing m.7493C>T in MTTS1: This variant is not expected to have clinical significance b ecause it has been identified in virtually all individuals from haplotypes D2a ( 60/60) and D2b (13/13) reported in MitoMap (http://www.mitomap.org/MITOMAP).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850899 SCV000993133 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.7493C>T variant in MT-TS1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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, BS2, BP4

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