ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)

dbSNP: rs748863844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799208 SCV000938862 pathogenic not provided 2023-08-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Usher's syndrome type II (PMID: 28653555, 30073356). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 645172). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2862*) 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).
Baylor Genetics RCV003461113 SCV004208212 pathogenic Retinitis pigmentosa 39 2023-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000799208 SCV005201215 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28653555, 32675063, 33089500, 33535592, 30073356)

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