ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9371+1G>C (rs41308425)

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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 RCV000041950 SCV000065646 pathogenic Rare genetic deafness 2016-06-23 criteria provided, single submitter clinical testing The c.9371+1G>C variant in USH2A has been reported in 5 individuals with Usher s yndrome with 4 of these individuals being compound heterozygous with a second pa thogenic USH2A variant (Le Quesne Stabej 2012, Zein 2015, Lenassi 2015, LMM data ). This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or a bsent protein. Loss of function of the USH2A gene is an established disease mech anism in autosomal recessive Usher syndrome. In summary, this variant meets our criteria to be classified as pathogenic for autosomal recessive Usher syndrome b ased on the predicted impact of the variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726813 SCV000703232 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV001002711 SCV001156383 pathogenic Usher syndrome, type 2A 2019-02-01 criteria provided, single submitter clinical testing

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