ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.458C>T (p.Ala153Val)

gnomAD frequency: 0.00001  dbSNP: rs757173567
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169917 SCV001251915 uncertain significance Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2020-05-03 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268430 SCV001447362 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001169917 SCV001522749 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2020-09-02 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Centogene AG - the Rare Disease Company RCV001169917 SCV002059673 uncertain significance Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2019-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002558695 SCV003746327 uncertain significance Inborn genetic diseases 2021-10-07 criteria provided, single submitter clinical testing The c.458C>T (p.A153V) alteration is located in exon 5 (coding exon 5) of the COQ4 gene. This alteration results from a C to T substitution at nucleotide position 458, causing the alanine (A) at amino acid position 153 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127669 SCV003803979 likely pathogenic Developmental disorder 2022-08-11 criteria provided, single submitter clinical testing
GeneDx RCV001268430 SCV005328226 likely pathogenic not provided 2024-02-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 34426522, 32056211, 33739554, 34656997)

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