Submissions for variant NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)

dbSNP: rs747063294

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000669826	SCV000794616	pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-10-04	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074508	SCV001240095	pathogenic	Retinal dystrophy	2017-12-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001380767	SCV001578925	pathogenic	not provided	2024-09-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln4711*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs747063294, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25097241, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554236). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001380767	SCV003803415	pathogenic	not provided	2022-08-05	criteria provided, single submitter	clinical testing	Nonsense 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 27318125, 25333064, 18641288, 28559085, 25097241, 28944237, 20507924)
CeGaT Center for Human Genetics Tuebingen	RCV001380767	SCV004009933	pathogenic	not provided	2023-06-01	criteria provided, single submitter	clinical testing	USH2A: PVS1, PM2, PM3, PP4
Genome-Nilou Lab	RCV003453292	SCV004183100	pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453291	SCV004183101	pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003453292	SCV004208242	pathogenic	Retinitis pigmentosa 39	2024-03-16	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074508	SCV005072705	pathogenic	Retinal dystrophy	2020-01-01	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV001380767	SCV005198967	pathogenic	not provided	2022-05-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000669826	SCV005645729	pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2024-04-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001380767	SCV001919232	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001380767	SCV001958101	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001380767	SCV001968882	pathogenic	not provided		no assertion criteria provided	clinical testing