ClinVar Miner

Submissions for variant NC_012920.1:m.4983C>T

dbSNP: rs1556422937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508415 SCV000604439 likely pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing The m.4983C>T variant introduces a premature termination codon into the MT-ND2 gene and is predicted to result in a truncated or absent protein product. This variant is also not listed in MITOMAP. Therefore, this variant is likely to be pathogenic.

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