ClinVar Miner

Submissions for variant NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) (rs397515359)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576518 SCV000678126 pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-01-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727619 SCV000854885 pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing
GeneReviews RCV000005448 SCV000086932 pathologic Usher syndrome, type 1C 2013-06-20 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000213574 SCV000268751 pathogenic Usher syndrome, type 1 2016-05-19 no assertion criteria provided literature only
Invitae RCV000727619 SCV000948241 pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg80Profs*69) in the USH1C gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397515359, ExAC 0.05%). This variant has been reported as homozygous or compound heterozygous in families and individuals affected with Usher syndrome type I (PMID: 10973248, 26969326, 12702164, 17407589). ClinVar contains an entry for this variant (Variation ID: 5141). Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824775 SCV000064967 pathogenic Rare genetic deafness 2015-07-26 criteria provided, single submitter clinical testing The p.Arg80fs variant in USH1C has been reported as a homozygous variant in at l east 5 individuals and as a compound heterozygous variant in at least 8 individu als with Usher syndrome, was absent in 552 control chromosomes, and segregated w ith a second pathogenic variant in 5 affected siblings (Bitner-Glindzicz 2000, B laydon 2003, Ebermann 2007, Le Quesne Stabej 2012, Ouyang 2003, Verpy 2000, Zwae nepoel 2001). It has been identified in 35/64768 European chromosomes by the Ex ome Aggregation Consortium (ExAC,; dbSNP rs148597 739); however, its frequency is low enough to be consistent with a recessive car rier frequency. This frameshift variant is predicted to alter the protein?s amin o acid sequence beginning at position 80 and lead to a premature termination cod on 69 amino acids downstream. This alteration is then predicted to lead to a tru ncated or absent protein. In summary, this variant meets our criteria to be clas sified as pathogenic for autosomal recessive Usher syndrome.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787893 SCV000926909 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505081 SCV000598662 pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research
OMIM RCV000005448 SCV000025630 pathogenic Usher syndrome, type 1C 2001-01-01 no assertion criteria provided literature only

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