ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.1324G>A (p.Val442Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592432 SCV005079619 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004690513 SCV005088528 likely pathogenic Retinitis pigmentosa 2024-07-12 criteria provided, single submitter research p.(Val442Met) affects an amino acid that is extremely conserved, and it is present heterozygously in only two control individuals from the gnomAD dataset (allele frequency = 8.1 x 10-6). Different in silico tools provided a very high pathogenicity value for this change.

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