ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1416_1441del (p.Asn472fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003727072 SCV004536944 pathogenic not provided 2023-06-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16963483). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn472Lysfs*17) 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).

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