ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6029del (p.Val2010fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002634340 SCV003524079 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2010Alafs*10) 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 present in population databases (rs762482370, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25575603, 33576794). ClinVar contains an entry for this variant (Variation ID: 2202957). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459772 SCV004206395 pathogenic Retinitis pigmentosa 39 2022-08-30 criteria provided, single submitter clinical testing

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