ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)

dbSNP: rs1657036615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090613 SCV001246239 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290591 SCV002581083 pathogenic Usher syndrome type 2A 2022-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090613 SCV003524042 pathogenic not provided 2021-12-24 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: 870919). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 24944099). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val4745Argfs*4) 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 RCV002290591 SCV004183088 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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