ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8681+1G>A (rs876657733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673469 SCV000798673 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222048 SCV000271474 pathogenic Usher syndrome; Rare genetic deafness 2015-11-03 criteria provided, single submitter clinical testing The c.8681+1G>A variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome nor in large population studies. This varia nt occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein . The loss of USH2A function is an established disease mechanism in autosomal re cessive Usher syndrome. In summary, this variant meets our criteria to be classi fied as pathogenic for Usher syndrome in an autosomal recessive manner based on the predicted impact of the variant.

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