ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15322C>T (p.Arg5108Trp) (rs746098518)

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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 RCV000222806 SCV000272894 uncertain significance not specified 2015-08-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg5108Trp va riant in USH2A has not been previously reported in individuals with hearing loss , but has been identified in 1/16490 of South Asian chromosomes and in 1/11562 o f Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs746098518). Arginine (Arg) at position 5108 is not conse rved in mammals or evolutionarily distant species and 2 mammals (Tibetan antelop e and armadillo) carry tryptophan (Trp) at this position, raising the possibilit y that this change may be tolerated. In summary, while the clinical significance of the p.Arg5108Trp variant is uncertain, these data suggest that it is more li kely to be benign.
Counsyl RCV000664705 SCV000788709 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-28 criteria provided, single submitter clinical testing

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