Submissions for variant NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)

dbSNP: rs794728002

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001090853	SCV001246611	pathogenic	not provided	2018-08-01	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001090853	SCV001762120	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001090853	SCV002126099	pathogenic	not provided	2022-08-17	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 105). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with PCARE-related conditions (PMID: 20398884, 28763557). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys919Thrfs*2) in the PCARE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004814785	SCV005069679	pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV000000125	SCV000020268	pathogenic	Retinitis pigmentosa 54	2010-05-14	no assertion criteria provided	literature only
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001002902	SCV001160937	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research
Faculty of Health Sciences, Beirut Arab University	RCV001257874	SCV001434625	pathogenic	Autosomal recessive retinitis pigmentosa	2017-08-01	no assertion criteria provided	literature only