ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter)

dbSNP: rs746837034
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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 RCV002519765 SCV003524033 pathogenic not provided 2021-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu4784*) 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 clinical features of Usher syndrome (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 236529).
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225551 SCV000282639 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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