ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.298G>T (p.Val100Leu)

gnomAD frequency: 0.00004  dbSNP: rs745669537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546043 SCV001765488 uncertain significance not provided 2020-08-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001546043 SCV002392527 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568963 SCV003758357 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.298G>T (p.V100L) alteration is located in exon 5 (coding exon 4) of the COQ8B gene. This alteration results from a G to T substitution at nucleotide position 298, causing the valine (V) at amino acid position 100 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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