ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)

gnomAD frequency: 0.00001  dbSNP: rs1045118320
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578354 SCV000680181 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2017-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623610 SCV000740749 likely pathogenic Inborn genetic diseases 2014-10-15 criteria provided, single submitter clinical testing The c.469C>A (p.Q157K) alteration is located in exon 5 of the COQ4 gene. This alteration results from a C to A substitution at nucleotide position 469, causing the glutamine (Q) at amino acid position 157 to be replaced by a lysine (K). The alteration is not observed in healthy cohorts:_x000D_ Based on data from the NHLBI Exome Sequencing Project (ESP), the COQ4 c.469C>A alteration was not observed among 6,503 individuals tested (0.0%). Allele frequency data for this nucleotide position are not currently available from the 1000 Genomes Project and the alteration is not currently listed in the Database of Single Nucleotide Polymorphisms (dbSNP)._x000D_ Though some variants may appear to be rare due to database-specific ethnic underrepresentation, rare missense alleles commonly exhibit a deleterious effect on protein function (Kryukov, 2007; Tennessen, 2012). IF USED, PULL THESE INTO REFERENCES:_x000D_ Kryukov GV, et al. (2007) Am J Hum Genet 80:727-739. Tennessen JA, et al. (2012) Science 337(64):64-69. The altered amino acid is conserved throughout evolution:_x000D_ The p.Q157 amino acid is well conserved in available vertebrate species. In silico prediction is conflicting:_x000D_ The p.Q157K alteration is predicted to be possibly damaging by Polyphen and tolerated by SIFT in silico analyses. Based on the available evidence, this alteration is classified as likely pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268474 SCV001447430 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268474 SCV001822359 likely pathogenic not provided 2021-06-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 26795593, 16116126, 21844807, 28540186, 27513193, 29388939, 17332895, 17485248, 18474229, 18579827, 21540551, 22368301, 24270420, 25126048, 25658047, 26185144)

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