ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9538del (p.Cys3180fs)

dbSNP: rs36108227
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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 RCV001911262 SCV002160188 pathogenic not provided 2021-01-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys3180Valfs*37) 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).
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389502 SCV003927079 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Genome-Nilou Lab RCV003452070 SCV004182678 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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