ClinVar Miner

Submissions for variant m.7471C>T

dbSNP: rs397515726
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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 RCV000035050 SCV000058690 likely benign not specified 2014-07-31 criteria provided, single submitter clinical testing 7471C>T in MTTS1: This variant is not expected to have clinical significance bec ause this variant has been found in the general population with haplogroup-speci fic frequencies ranging from 0.3% to 1.5% (http://www.mitomap.org). Additionally , this variant is reported as a branching polymorphism in phylogeny studies and belongs to H1ax mitochondrial haplogroup (Behar 2012).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850890 SCV000993124 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.7471C>T variant in MT-TS1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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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