ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8240del (p.Pro2747fs)

dbSNP: rs1553272201
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669361 SCV000794108 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-09-13 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268203 SCV001446954 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453287 SCV004182827 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453286 SCV004182828 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453287 SCV004206418 pathogenic Retinitis pigmentosa 39 2022-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268203 SCV004292392 pathogenic not provided 2023-03-18 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: 553836). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 28944237). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2747Hisfs*22) 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).

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