ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5278del (p.Asp1760fs)

gnomAD frequency: 0.00001  dbSNP: rs754374132
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671172 SCV000796123 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-07 criteria provided, single submitter clinical testing
Mendelics RCV000986535 SCV001135552 pathogenic Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001060498 SCV001225191 pathogenic not provided 2024-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1760Metfs*10) 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 present in population databases (rs754374132, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 22004887, 25404053, 26969326). ClinVar contains an entry for this variant (Variation ID: 555362). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073368 SCV001238909 pathogenic Retinal dystrophy 2019-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001060498 SCV003915320 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30337596, 25404053, 32037395, 30459346, 26969326, 22004887)
Genome-Nilou Lab RCV003453321 SCV004181826 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986535 SCV004181827 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453321 SCV004206396 pathogenic Retinitis pigmentosa 39 2022-08-26 criteria provided, single submitter clinical testing

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