ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6905del (p.His2302fs)

dbSNP: rs2102458388
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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 RCV001937393 SCV002133442 pathogenic not provided 2020-11-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His2302Leufs*24) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related conditions. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001937393 SCV002544363 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing USH2A: PVS1, PM2
Genome-Nilou Lab RCV003452015 SCV004181596 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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