ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs)

dbSNP: rs1657950450
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245029 SCV001418289 pathogenic not provided 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr4347Ilefs*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). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 29625443). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001245029 SCV001825828 pathogenic not provided 2022-11-15 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29625443)
Genome-Nilou Lab RCV003449771 SCV004181913 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449771 SCV004208378 pathogenic Retinitis pigmentosa 39 2024-03-22 criteria provided, single submitter clinical testing

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