ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.3G>T (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs746489573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001960882 SCV002239251 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the COQ7 mRNA. The next in-frame methionine is located at codon 39. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COQ7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1463095). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Mendelics RCV002246628 SCV002519426 pathogenic Primary coenzyme Q10 deficiency 8 2022-05-04 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002246628 SCV002818326 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 RCV003336488 SCV004046646 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 9 2024-01-31 no assertion criteria provided literature only

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