ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)

dbSNP: rs886041838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000382319 SCV000330607 pathogenic not provided 2016-06-23 criteria provided, single submitter clinical testing The Q263X pathogenic variant in the HDAC8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q263X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q263X as a pathogenic variant
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677735 SCV000803892 pathogenic Cornelia de Lange syndrome 5 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV000677735 SCV002166675 pathogenic Cornelia de Lange syndrome 5 2020-12-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with HDAC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 280671). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln263*) in the HDAC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HDAC8 are known to be pathogenic (PMID: 19605684, 22885700, 24403048, 25075551, 26671848).

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