ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7718G>A (p.Arg2573His) (rs189748047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726649 SCV000701949 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000595275 SCV000710851 likely benign not specified 2016-05-02 criteria provided, single submitter clinical testing p.Arg2573His in exon 41 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, >20 mammals have a histidine at this position despite high nearby amino a cid conservation. In addition, computational prediction tools do not suggest a h igh likelihood of impact to the protein. It has also been identified in 8/11572 Latino chromosomes and 24/66684 European chromosomes by the Exome Aggregation Co nsortium (ExAC,; dbSNP rs189748047).

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