Submissions for variant NM_206933.4(USH2A):c.4886-1G>A

dbSNP: rs1553300340

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000672653	SCV000797779	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2018-02-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001377692	SCV001575085	likely pathogenic	not provided	2023-04-07	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 556624). This sequence change affects an acceptor splice site in intron 23 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab	RCV003446329	SCV004172131	likely pathogenic	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446328	SCV004172132	likely pathogenic	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003446329	SCV005055754	likely pathogenic	Retinitis pigmentosa 39	2023-12-24	criteria provided, single submitter	clinical testing