ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9089T>C (p.Ile3030Thr) (rs876658116)

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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 RCV000220353 SCV000272902 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile3030Thr va riant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Isoleucine (Ile) at position 3030 is not conserved in some mammals and many evolutionarily distant species, w ith 5 fish species having a threonine (Thr) at this position. Computational pred iction tools do not provide strong support for or against an impact to the prote in. In summary, while the clinical significance of the p.Ile3030Thr variant is u ncertain, the lack of evolutionarily conservation suggests that it is more likel y to be benign.
Counsyl RCV000673847 SCV000799095 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-12 criteria provided, single submitter clinical testing

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