ClinVar Miner

Submissions for variant NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760234 SCV000890065 uncertain significance Intellectual disability 2017-09-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV000760234 SCV001434468 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
GeneDx RCV001597212 SCV001830799 pathogenic not provided 2021-04-22 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 101 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32530565, 31649809, 30487643)
Invitae RCV001597212 SCV003484120 pathogenic not provided 2022-11-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620028). This premature translational stop signal has been observed in individual(s) with PHF21A-related conditions (PMID: 30487643, 31649809). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg580*) in the PHF21A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHF21A are known to be pathogenic (PMID: 30487643).
OMIM RCV000984882 SCV001132788 pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 2020-02-11 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001597212 SCV001932458 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001597212 SCV001967703 likely pathogenic not provided no assertion criteria provided clinical testing

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