ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)

gnomAD frequency: 0.00011  dbSNP: rs139065588
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Total submissions: 8
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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 RCV000041763 SCV000065459 likely benign not specified 2015-08-26 criteria provided, single submitter clinical testing p.Thr4839Met in exon 66 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 8 mammals have a methionine at this position despite high nearby amino ac id conservation. This variant has been identified in 12/121404 total chromosome s by the Exome Aggregation Consortium and was present in several populations (Ex AC, http://exac.broadinstitute.org; dbSNP rs139065588).
Counsyl RCV000665634 SCV000789787 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-02-17 criteria provided, single submitter clinical testing
Invitae RCV001034422 SCV001197772 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001272933 SCV001806568 likely benign Usher syndrome type 2A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579147 SCV001806569 likely benign Retinitis pigmentosa 39 2021-07-22 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887899 SCV004707211 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
GeneDx RCV001034422 SCV005078520 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001272933 SCV001455384 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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