Submissions for variant NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)

dbSNP: rs1294733964

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000664928	SCV000788965	uncertain significance	Usher syndrome type 2A; Retinitis pigmentosa 39	2016-12-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002530641	SCV003524113	uncertain significance	not provided	2023-12-11	criteria provided, single submitter	clinical testing	This variant, c.3596_3598del, results in the deletion of 1 amino acid(s) of the USH2A protein (p.Glu1199del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 25078356, 31213501, 33105608, 33629268). ClinVar contains an entry for this variant (Variation ID: 550234). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV003451630	SCV004182323	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003451629	SCV004182324	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003451630	SCV004200759	pathogenic	Retinitis pigmentosa 39	2024-02-12	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003889943	SCV004708023	likely pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research