ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)

dbSNP: rs763463859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673159 SCV000798331 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-03-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465523 SCV004207694 likely pathogenic Retinitis pigmentosa 39 2023-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698808 SCV004468594 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln5138*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 32675063). ClinVar contains an entry for this variant (Variation ID: 557069). 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.

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