ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)

dbSNP: rs2102554503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890211 SCV002137759 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1786*) 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 Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 1378663). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003136242 SCV003806910 pathogenic Usher syndrome type 2A 2022-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated, PM3 supporting
Genome-Nilou Lab RCV003136242 SCV004181820 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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