ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9811del (p.Met3271fs)

dbSNP: rs767328784
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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 RCV001058613 SCV001223197 pathogenic not provided 2022-10-24 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Usher syndrome type II (PMID: 25558175, 25575603). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs767328784, gnomAD 0.0009%). ClinVar contains an entry for this variant (Variation ID: 853741). This sequence change creates a premature translational stop signal (p.Met3271Cysfs*30) 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). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467794 SCV004206285 pathogenic Retinitis pigmentosa 39 2023-03-16 criteria provided, single submitter clinical testing

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