ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)

dbSNP: rs111033417
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Total submissions: 5
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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 RCV000041739 SCV000065435 likely pathogenic Rare genetic deafness 2009-05-06 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073672 SCV001239225 pathogenic Retinal dystrophy 2019-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514159 SCV003523480 pathogenic not provided 2022-06-22 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: 48416). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24944099). This variant is present in population databases (rs111033417, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp4438*) 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 RCV003450773 SCV004181886 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450773 SCV004208353 pathogenic Retinitis pigmentosa 39 2023-12-14 criteria provided, single submitter clinical testing

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