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

Total submissions: 7

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