ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11687_11689TCA[2] (p.Ile3898del) (rs727504714)

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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 RCV000155998 SCV000205710 uncertain significance not specified 2013-09-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile3898del vari ant in USH2A has not been reported in individuals with hearing loss, but has bee n identified in 0.12% (10/8254) of European American chromosomes and 0.1% (4/426 4) of African American chromosomes from a broad population by the NHLBI Exome Se quencing Project (http://evs.gs.washington.edu/EVS). This variant leads to an in -frame deletion of one amino acid residue (Ile) at position 3898 which is not we ll conserved across species; however, this information is not sufficient to rule out an impact to the protein. In summary, the clinical significance of this var iant cannot be determined with certainty; however, based upon its presence in th e general population, we lean towards a more likely benign role.
Counsyl RCV000665431 SCV000789555 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-07 criteria provided, single submitter clinical testing

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