ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter)

dbSNP: rs765966679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627357 SCV000748350 likely pathogenic not provided 2019-07-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001824848 SCV002074946 not provided Autosomal recessive ataxia due to ubiquinone deficiency no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 04-27-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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