ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer)

dbSNP: rs1664846221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380112 SCV001578058 pathogenic not provided 2023-03-26 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: 1068513). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2744*) 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 RCV003473922 SCV004200693 pathogenic Retinitis pigmentosa 39 2023-06-03 criteria provided, single submitter clinical testing

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