ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1247G>A (p.Arg416His)

gnomAD frequency: 0.00003  dbSNP: rs767899984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991495 SCV001142949 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334064 SCV001526803 uncertain significance Autosomal recessive ataxia due to ubiquinone deficiency 2018-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000991495 SCV002968606 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 416 of the COQ8A protein (p.Arg416His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with COQ8A-related conditions. ClinVar contains an entry for this variant (Variation ID: 804506). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COQ8A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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