ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)

dbSNP: rs1553294144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672707 SCV000797841 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001380295 SCV001578298 pathogenic not provided 2022-03-18 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: 556673). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2060Profs*43) 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).
Genome-Nilou Lab RCV003453355 SCV004181695 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453354 SCV004181696 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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