ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.1235-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338133 SCV004047076 likely pathogenic Combined oxidative phosphorylation deficiency 35 criteria provided, single submitter clinical testing The splice acceptor c.1235-2A>G variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1235-2A>G variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The c.1235-2A>G variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of other reportable variant, the molecular diagnosis is not confirmed.

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