ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.920_923dup (p.His308fs) (rs397518043)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000041941 SCV000598152 pathogenic Usher syndrome, type 2A 2016-11-08 criteria provided, single submitter clinical testing This heterozygous variant in the USH2A gene (autosomal recessive transmission), was present in a female patient with Usher syndrome who also harbours a large deletion in the same gene (compound heterozygosity).
Counsyl RCV000041941 SCV000487444 pathogenic Usher syndrome, type 2A 2016-08-18 criteria provided, single submitter clinical testing
Counsyl RCV000411255 SCV000487445 pathogenic Retinitis pigmentosa 39 2016-08-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790675 SCV000231841 pathogenic not provided 2015-04-24 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000411255 SCV000804750 pathogenic Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing
Invitae RCV000790675 SCV000949075 pathogenic not provided 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His308Glnfs*16) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397518043, ExAC 0.02%). This variant has been reported to segregate with retinal dystrophy in a family (PMID: 23940504), and has also been reported in individuals affected with Usher syndrome 2A (PMID: 10729113, 26969326), and retinitis pigmentosa (PMID: 26806561). This variant is also known as 921-922insCAGC in the literature. ClinVar contains an entry for this variant (Variation ID: 48615). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10909849, 20507924, 24944099, 25649381). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824800 SCV000065637 pathogenic Rare genetic deafness 2014-07-08 criteria provided, single submitter clinical testing The His308fs variant has been reported in many probands with Usher syndrome type II, many of whom were homozygous or compound heterozygous (Weston 2000, Sandber g 2008, Aller 2004, Dreyer 2008, Dreyer 2000, Jaijo 2009, Leroy 2001, Ouyang 200 4, Pennings 2004, Seyedahmadi 2004). In addition, the His308fs variant is predic ted to cause a frameshift, which alters the protein's amino acid sequence beginn ing at codon 308 and leads to a premature stop codon 16 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summar y, this variant meets our criteria to be classified as pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000041941 SCV000809063 pathogenic Usher syndrome, type 2A 2018-05-09 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000505107 SCV000926747 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505018 SCV000598839 pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505107 SCV000598840 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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