Submissions for variant NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)

dbSNP: rs1553268582

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000672679	SCV000797811	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2018-02-13	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001543490	SCV001762092	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Invitae	RCV001543490	SCV002217736	pathogenic	not provided	2024-01-17	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu2973Lysfs*79) 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 inherited retinal dystrophy (PMID: 25356976). ClinVar contains an entry for this variant (Variation ID: 556647). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV003453353	SCV004182756	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453352	SCV004182757	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003453353	SCV004206435	pathogenic	Retinitis pigmentosa 39	2022-03-11	criteria provided, single submitter	clinical testing