ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs)

dbSNP: rs1221017154
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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 RCV001956111 SCV002240835 pathogenic not provided 2021-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1946Leufs*22) 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: 22135276).
Baylor Genetics RCV003475242 SCV004200676 pathogenic Retinitis pigmentosa 39 2023-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008305 SCV005638633 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-03-29 criteria provided, single submitter clinical testing

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