ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)

gnomAD frequency: 0.00003  dbSNP: rs370597096
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Total submissions: 4
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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 RCV000041876 SCV000065572 likely benign not specified 2012-11-20 criteria provided, single submitter clinical testing Leu2015Phe in exon 30 of USH2A: This variant has been identified in 0.02% (2/860 0) of European American chromosomes from a broad population by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS/). It is not expected to hav e clinical significance due to a lack of conservation across species, including mammals. Of note, guinea pig, dolphin, cow and tenrec have a phenylalanine (Phe ) at this position. Therefore, this variant is likely benign.
Counsyl RCV000665501 SCV000789636 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001509571 SCV001716336 uncertain significance Usher syndrome type 2A 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513603 SCV003445023 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing

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