ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.13760C>T

dbSNP: rs1603224340
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854979 SCV000998026 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.13760C>T (YP_003024036.1:p.Ala475Val) variant in MTND5 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PP6, BP4, BP5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004586958 SCV005077774 uncertain significance Leber optic atrophy 2024-04-24 criteria provided, single submitter clinical testing The m.13760C>T variant is not present in publicly available population databases like mtDB and our in-house exome database. The variant is present in the gnomAD, MITOMAP and HelixMtdb databases at low frequencies. This variant has not been published in literature with MT-ND5-related conditions. It has been previously reported to the ClinVar database as ‘Uncertain significance’ by a single submitter. This variant is present in the MitImpact database (ID: MI.22300). Predictions from different in-silico pathogenicity prediction programs like SIFT, PolyPhen-2, CADD, APOGEE1, APOGEE2, Varsome, Franklin etc are contradictory.

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.