ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)

gnomAD frequency: 0.00001  dbSNP: rs1358947010
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004144 SCV001162878 pathogenic Usher syndrome type 2A criteria provided, single submitter clinical testing
Invitae RCV001383730 SCV001582983 pathogenic not provided 2023-09-25 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: 813344). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 24944099, 30029497, 30337596). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp3918*) 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).
Fulgent Genetics, Fulgent Genetics RCV002489513 SCV002802618 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455060 SCV004182073 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001004144 SCV004182074 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001004144 SCV002088322 pathogenic Usher syndrome type 2A 2020-04-07 no assertion criteria provided clinical testing

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