Submissions for variant NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)

dbSNP: rs944675223

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000670682	SCV000795568	likely pathogenic	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-11-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001383884	SCV001583203	pathogenic	not provided	2022-08-16	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: 554957). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 22334370, 26927203). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys3509*) 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	RCV003453309	SCV004182546	likely pathogenic	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453308	SCV004182547	likely pathogenic	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001383884	SCV001918525	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001383884	SCV001965650	pathogenic	not provided		no assertion criteria provided	clinical testing