ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.55C>T (p.Gln19Ter)

gnomAD frequency: 0.00001  dbSNP: rs1832230836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004372120 SCV004850453 likely pathogenic Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.55C>T (p.Q19*) alteration, located in exon 1 (coding exon 1) of the COQ4 gene, consists of a C to T substitution at nucleotide position 55. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 19. The predicted stop codon occurs in the 5' end of the COQ4 gene. Premature termination codons in the 5’ end of a gene have been reported to escape nonsense-mediated mRNA decay and/or lead to re-initiation (Rivas, 2015; Lindeboom, 2016; Rhee, 2017). Direct evidence for this alteration is unavailable; however, premature termination codons are typically deleterious in nature. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as likely pathogenic.

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