ClinVar Miner

Submissions for variant NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter)

dbSNP: rs1555338209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497660 SCV000589832 likely pathogenic not provided 2016-05-06 criteria provided, single submitter clinical testing The Q176X variant not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q176X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q176X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant to be likely pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989540 SCV004808026 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 21 2024-03-29 criteria provided, single submitter clinical testing

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