Submissions for variant NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)

dbSNP: rs376983577

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001970023	SCV002232772	pathogenic	not provided	2024-04-03	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly2390*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 1455422). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV001970023	SCV002586942	pathogenic	not provided	2022-04-18	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: 24944099)
Genome-Nilou Lab	RCV003453865	SCV004181550	pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005016947	SCV005638830	pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2024-06-11	criteria provided, single submitter	clinical testing
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	RCV002307814	SCV002600238	pathogenic	Usher syndrome type 2	2022-11-14	no assertion criteria provided	clinical testing	Novel pathogenic variant. PVS1, PM2, PP5. https://franklin.genoox.com/clinical-db/variant/snp/chr1-216108090-C-A