Submissions for variant NM_206933.4(USH2A):c.9959-4159A>G

dbSNP: rs1662067653

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001224891	SCV001397117	pathogenic	not provided	2023-03-09	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This sequence change falls in intron 50 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with retinitis pigmentosa and/or Usher syndrome (PMID: 26629787; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 952728). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26629787).
Baylor Genetics	RCV003469394	SCV004208291	likely pathogenic	Retinitis pigmentosa 39	2023-09-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001224891	SCV001923890	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001224891	SCV001974258	pathogenic	not provided		no assertion criteria provided	clinical testing