Submissions for variant NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)

gnomAD frequency: 0.00001  dbSNP: rs111033385

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000824778	SCV000065431	likely pathogenic	Rare genetic deafness	2008-03-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725789	SCV000339396	pathogenic	not provided	2016-02-17	criteria provided, single submitter	clinical testing
Counsyl	RCV000041735	SCV000487486	pathogenic	Usher syndrome type 2A	2016-08-18	criteria provided, single submitter	clinical testing
Counsyl	RCV000410671	SCV000487487	pathogenic	Retinitis pigmentosa 39	2016-08-18	criteria provided, single submitter	clinical testing
Invitae	RCV000725789	SCV000955119	pathogenic	not provided	2023-04-25	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 48412). This premature translational stop signal has been observed in individuals with USH2A-related conditions (PMID: 22135276, 25558175). This variant is present in population databases (rs111033385, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser4377*) 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).
Genome-Nilou Lab	RCV000410671	SCV004181905	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000041735	SCV004181906	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000410671	SCV004206385	pathogenic	Retinitis pigmentosa 39	2022-10-04	criteria provided, single submitter	clinical testing