ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1556A>G (p.Gln519Arg) (rs199672621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488160 SCV000574829 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Counsyl RCV000665727 SCV000789893 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041792 SCV000065488 uncertain significance not specified 2010-08-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gln519Arg varia nt in USH2A has not been reported in the literature but was identified in our la boratory in one indivudal with another clear etiology for hearing loss. This res idue is conserved in mammals; however, computational analyses (PolyPhen, SIFT, A lignGVGD) provide inconsistent predictions regarding the impact to the protein. It should be noted that this lab has only sequenced the USH2A gene in XXX indivi duals such that the full spectrum of benign variation has not yet been defined f or this gene, increasing the possibility that this may be a benign variant. In s ummary, the clinical significance of this variant cannot be determined with cert ainty at this time; however, based upon the arguments described above, we would lean towards a more likely benign role.

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