ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)

dbSNP: rs1667472317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228843 SCV001401264 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2307Hisfs*25) 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 retinitis pigmentosa (PMID: 25649381). ClinVar contains an entry for this variant (Variation ID: 956100). For these reasons, this variant has been classified as Pathogenic.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389489 SCV003927110 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Genome-Nilou Lab RCV003449720 SCV004181593 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462781 SCV004208153 pathogenic Retinitis pigmentosa 39 2023-10-19 criteria provided, single submitter clinical testing

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