ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)

gnomAD frequency: 0.00001  dbSNP: rs111033385
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000824778 SCV000065431 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725789 SCV000339396 pathogenic not provided 2016-02-17 criteria provided, single submitter clinical testing
Counsyl RCV000041735 SCV000487486 pathogenic Usher syndrome type 2A 2016-08-18 criteria provided, single submitter clinical testing
Counsyl RCV000410671 SCV000487487 pathogenic Retinitis pigmentosa 39 2016-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725789 SCV000955119 pathogenic not provided 2023-04-25 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: 48412). This premature translational stop signal has been observed in individuals with USH2A-related conditions (PMID: 22135276, 25558175). This variant is present in population databases (rs111033385, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser4377*) 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 RCV000410671 SCV004181905 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000041735 SCV004181906 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410671 SCV004206385 pathogenic Retinitis pigmentosa 39 2022-10-04 criteria provided, single submitter clinical testing

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