ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) (rs371856107)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601958 SCV000711228 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing The p.Gly877Glu variant in USH1C has been reported in 1 individual with retiniti s pigmentosa who also had a second variant in USH1C (O'Sullivan 2012). This var iant has been identified in 7/16512 of South Asian chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs371856107); ho wever, its frequency is not high enough to rule out a pathogenic role. Computati onal prediction tools and conservation analyses do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Gly877Glu variant is uncertain.
Invitae RCV001474632 SCV001678804 likely benign not provided 2020-12-06 criteria provided, single submitter clinical testing

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