ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter)

dbSNP: rs769612846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957632 SCV002211112 pathogenic not provided 2021-12-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome, type 2 (PMID: 22135276). This variant is present in population databases (rs769612846, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp1607*) 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 RCV003471086 SCV004206318 likely pathogenic Retinitis pigmentosa 39 2023-02-23 criteria provided, single submitter clinical testing

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