ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.142+4A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003335982 SCV004042841 likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2023-10-19 criteria provided, single submitter clinical testing This homozygous intron variant identified in a 38days male patient with liver failure, raised AFP and lactate. This nucleotide change is absent from gnomAD population database [PM2]. In-silico predictions (dbscSNV) favor a deleterious nature of this variant [PP3]. Parental segregation confirmed heterozygous state based on TRIO Exome sequencing. Based on the available evidence, variant has been classified as a "Likely Pathogenic".

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