ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu)

gnomAD frequency: 0.00005  dbSNP: rs374567167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881390 SCV002148850 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 327 of the COQ2 protein (p.Pro327Leu). This variant is present in population databases (rs374567167, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1386267). 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 COQ2 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002482674 SCV002783801 uncertain significance Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 2022-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004611949 SCV005103288 likely benign Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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