Submissions for variant NM_017934.7(PHIP):c.919_923del (p.Ile307fs)

dbSNP: rs771126523

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001093185	SCV001250041	pathogenic	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PHIP: PVS1, PS2, PM2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001093185	SCV001446670	likely pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001784644	SCV002018778	pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	2019-11-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001093185	SCV002526457	pathogenic	not provided	2022-06-16	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28333917, 31167805, 27900362, 28965761, 29209020)
MGZ Medical Genetics Center	RCV001784644	SCV002580886	pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	2022-06-24	criteria provided, single submitter	clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles	RCV003156138	SCV003845281	pathogenic	See cases	2022-12-21	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	RCV001784644	SCV002583348	pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	2021-12-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734009	SCV005357464	pathogenic	PHIP-related disorder	2024-01-09	no assertion criteria provided	clinical testing	The PHIP c.919_923del5 variant is predicted to result in a frameshift and premature protein termination (p.Ile307Profs*22). This variant has been reported to occur de novo in multiple individuals with features of Chung-Jansen syndrome (see for example - Vissers et al.ha 2017. PubMed ID: 28333917; supplemental data, Jansen et al. 2018. PubMed ID: 29209020). This variant is reported in 0.010% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Frameshift variants in PHIP are expected to be pathogenic. This variant is interpreted as pathogenic.