ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del)

dbSNP: rs2037015853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241605 SCV001414633 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This variant, c.1760_1762del, results in the deletion of 1 amino acid(s) of the USH2A protein (p.Asn587del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 25425308). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003473821 SCV004200696 likely pathogenic Retinitis pigmentosa 39 2023-05-31 criteria provided, single submitter clinical testing

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