ClinVar Miner

Submissions for variant NC_012920.1:m.12535C>T

dbSNP: rs876661356
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Total submissions: 2
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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 RCV000854830 SCV000997874 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.12535C>T (YP_003024036.1:p.His67Tyr) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223843 SCV000280191 uncertain significance not specified 2013-04-22 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. MT-ND5 m.12535 C>T This is a novel variant. M.12535 C>T results in a semi-conservative amino acid sbstitution of a positively charged Histidine residue with a neutral, polar Tyrosine at a positive that is not well conserved across sepcies. In silico analysis predicts m.12535 C>T is probably damaging to the protein stucture/function. This variant has been observed in the general population at a low frequency (1/2,704 in mtDB, 1/3,735 in MitoWheel).

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