ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.706G>A (p.Val236Met)

gnomAD frequency: 0.00017  dbSNP: rs146225943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550671 SCV001771038 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001550671 SCV002424599 benign not provided 2023-03-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151339 SCV003839377 uncertain significance not specified 2022-08-23 no assertion criteria provided clinical testing DNA sequence analysis of the COQ8B gene demonstrated a sequence change, c.706G>A, in exon 8 that results in an amino acid change, p.Val236Met. This sequence change does not appear to have been previously described in individuals with COQ8B-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.27% in the African subpopulation and 0.024% in the overall population (dbSNP rs146225943). The p.Val236Met change affects a highly conserved amino acid residue located in a domain of the COQ8B protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Val236Met substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Val236Met change remains unknown at this time.
PreventionGenetics, part of Exact Sciences RCV003948584 SCV004759732 likely benign COQ8B-related disorder 2022-02-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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