ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)

dbSNP: rs1553285944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673506 SCV000798715 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091960 SCV005743656 pathogenic not provided 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2237Tyrfs*39) 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 557372). For these reasons, this variant has been classified as Pathogenic.

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