ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)

gnomAD frequency: 0.00002  dbSNP: rs765476745
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670968 SCV000795899 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-11-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004142 SCV001162875 pathogenic Usher syndrome type 2A criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388593 SCV001589647 pathogenic not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4541*) 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 individuals with USH2A-related conditions (PMID: 22135276, 28559085). ClinVar contains an entry for this variant (Variation ID: 555195). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001388593 SCV002020852 pathogenic not provided 2021-07-05 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV001004142 SCV002761651 pathogenic Usher syndrome type 2A 2020-10-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453316 SCV004183149 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001004142 SCV004183150 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453316 SCV005055776 pathogenic Retinitis pigmentosa 39 2023-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001004142 SCV002088250 pathogenic Usher syndrome type 2A 2021-02-01 no assertion criteria provided clinical testing

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