ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.1619C>T

dbSNP: rs1569483811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756364 SCV000884156 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing This variant affects the mitochondrial tRNA for valine and has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is also rare in population databases such as MITOMAP (0.005% population frequency). However, the cytosine at position 1619 is weakly conserved (UCSC genome browser), suggesting this variant is evolutionary tolerated. However, based on the available information, the clinical significance of the m.1619C>T variant cannot be determined with certainty.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850665 SCV000992896 likely benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.1619C>T variant in MT-TV gene is interpreted to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BP5, BP4

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