ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) (rs374696855)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156889 SCV000206610 likely benign not specified 2014-11-03 criteria provided, single submitter clinical testing p.Arg864Gln in exon 26 of USH1C: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, Tibetan antelope, domestic goat, cat, elephant, manatee, and tenrec have a glutamine at this position despite high nearby amino acid conservation. In addi tion, additional computational prediction tools do not suggest a high likelihood of impact to the protein. This variant has also been identified in 0.02% (2/858 6) of European American chromosomes by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs374696855).
Invitae RCV000913381 SCV001058526 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000913381 SCV001764472 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing

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