ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14970del (p.Phe4991fs)

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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 RCV003667252 SCV004389426 pathogenic not provided 2023-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe4991Serfs*18) 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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).
Baylor Genetics RCV004574184 SCV005055751 likely pathogenic Retinitis pigmentosa 39 2023-12-28 criteria provided, single submitter clinical testing

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