ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) (rs727503734)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152623 SCV000201935 uncertain significance not specified 2013-10-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val1165Leu vari ant in USH2A has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val1165Leu varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon conservation and computa tional data, we would lean towards a more likely benign role.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487610 SCV000574822 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000670960 SCV000795887 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-21 criteria provided, single submitter clinical testing

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