ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)

dbSNP: rs2037682180
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237068 SCV001409818 pathogenic not provided 2024-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp409*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome type 2 and autosomal recessive retinitis pigmentosa (PMID: 26927203, 27318125). ClinVar contains an entry for this variant (Variation ID: 963094). For these reasons, this variant has been classified as Pathogenic.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389490 SCV003927069 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV003388606 SCV004100403 pathogenic Usher syndrome type 2A criteria provided, single submitter clinical testing The stop gained p.W409* in USH2A (NM_206933.4) variant has been observed in individuals affected with Usher syndrome type 2 and autosomal recessive retinitis pigmentosa ( Bas P Hartel et al 2016; Laurence H M Pierrache et al 2016 ). The variant has been submitted to ClinVar as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic. The p.W409* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Pathogenic. A different heterozygous variant in the USH2A gene has been detected in the spouse.
Genome-Nilou Lab RCV003388606 SCV004182900 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462803 SCV004208161 likely pathogenic Retinitis pigmentosa 39 2023-10-17 criteria provided, single submitter clinical testing

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