ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)

gnomAD frequency: 0.00003  dbSNP: rs747065891
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218578 SCV000271169 likely benign not specified 2016-03-14 criteria provided, single submitter clinical testing p.Pro1710Pro in exon 25 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/121051 chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs747065891).
Labcorp Genetics (formerly Invitae), Labcorp RCV000942681 SCV001088612 likely benign not provided 2024-02-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454586 SCV004181841 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454585 SCV004181842 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532747 SCV004730163 likely benign USH2A-related disorder 2022-01-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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