ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) (rs397518033)

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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 RCV000041914 SCV000065610 uncertain significance not specified 2011-08-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val2562Phe vari ant in USH2A has not been reported in the literature nor previously identified b y our laboratory. However, another variant occurring at this position, Val2526Al a, has been reported in Usher syndrome probands, several of whom had other expla nations for their Usher syndrome manifestations or did not have a second USH2A a llele, supporting a benign role (Dreyer 2008, Jaijo 2009, LMM- unpublished data) . This residue is not highly conserved in mammals and computational analyses (Po lyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the prot ein. However, this information is not predictive enough to rule out pathogenicit y. In summary, the clinical significance of this variant cannot be determined at this time; however based upon the arguments above, we would lean towards a more likely benign role.
Counsyl RCV000672278 SCV000797371 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-24 criteria provided, single submitter clinical testing

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