ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12667T>C (p.Phe4223Leu) (rs150900847)

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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 RCV000041727 SCV000065423 uncertain significance not specified 2015-08-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Phe4223Leu va riant in USH2A has been identified by our laboratory in 2 individuals with heari ng loss; however, a second variant was not identified in either individual. It h as also been identified in 2/10338 African chromosomes and in 4/66532 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs150900847). Computational prediction tools and conservation analys is suggest that the p.Phe4223Leu variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, whi le the clinical significance of the p.Phe4223Leu variant is uncertain, these dat a suggest it is more likely to be benign.
Counsyl RCV000664798 SCV000788813 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-16 criteria provided, single submitter clinical testing

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