Submissions for variant NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter)

dbSNP: rs2073709795

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001268709	SCV001447837	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001268709	SCV002168958	pathogenic	not provided	2022-10-04	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: 987368). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 28559085). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys73*) in the PRPF31 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPF31 are known to be pathogenic (PMID: 18317597, 23950152).
CeGaT Center for Human Genetics Tuebingen	RCV001268709	SCV003918184	pathogenic	not provided	2023-03-01	criteria provided, single submitter	clinical testing	PRPF31: PVS1, PM2, PS4:Moderate
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004814056	SCV005068466	pathogenic	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing