ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys)

gnomAD frequency: 0.00003  dbSNP: rs760710474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903238 SCV002157650 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 149 of the COQ7 protein (p.Tyr149Cys). This variant is present in population databases (rs760710474, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of coenzyme Q10 deficiency (PMID: 30369941, 37170631). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1396906). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects COQ7 function (PMID: 37392700). 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.
GenomeConnect, ClinGen RCV002508971 SCV002818325 not provided Primary coenzyme Q10 deficiency 8 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 01-04-2022 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV002508971 SCV004242174 pathogenic Primary coenzyme Q10 deficiency 8 2024-01-31 no assertion criteria provided literature only
OMIM RCV003493887 SCV004242175 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 9 2024-01-31 no assertion criteria provided literature only

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