ClinVar Miner

Submissions for variant m.3394T>C (rs41460449)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507319 SCV000604438 pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing The m.3394T>C variant is found at a frequency of 1.3% in MITOMAP (identified in 409 out of 32,059 sequences). When this variant has been reported in Leber hereditary optic neuropathy (LHON) patients, it is typically found alongside a primary variant; normally m.14484T>C (Brown 1995). The exact contribution of secondary variants such as m.3394T>C to the LHON phenotype is not fully understood, although data indicate that m.3394T>C likely influences the LHON phenotype in an ethnic-specific manner. While the frequency of m.3394T>C in Japanese LHON patients was not increased over controls (Matsumoto 1999), this mutation was found in 8.5% of Caucasian LHON patients compared to 1.1% of controls (Brown 1995). Furthermore, m.3394T>C was identified in four Chinese families effected with a low penetrance form of LHON (Liang 2009). m.3394T>C was identified in these families in the absence of any primary variant, suggesting that it plays a critical role in the LHON phenotype, either in isolation or by modifying other as-yet unidentified factors.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853650 SCV000996678 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3394T>C (YP_003024026.1:p.Tyr30His) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2
OMIM RCV000010375 SCV000030601 pathogenic Leber's optic atrophy 1992-11-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.