ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) (rs137852834)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508230 SCV000602965 pathogenic not specified 2017-03-08 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415120 SCV000492659 pathogenic Nystagmus; Molar tooth sign on MRI; Central hypotonia 2016-03-07 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415219 SCV000492731 pathogenic Blindness 2015-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763312 SCV000893989 pathogenic Leber congenital amaurosis 10; Meckel syndrome type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000484693 SCV000567332 pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing The K1575X nonsense variant has been previously reported in individuals with Joubert syndrome, Senior-Loken syndrome (SLS), and non-syndromic Leber congenital amaurosis, who all harbored a secondCEP290 variant on the other allele (Brancati et al., 2007, Perrault et al., 2007). Additionally, K1575X ishypothesized to represent a founder variant from France (Perrault et al., 2007). This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider K1575X in CEP290 to be a pathogenic variant.
OMIM RCV000001402 SCV000021552 pathogenic Joubert syndrome 5 2007-07-01 no assertion criteria provided literature only
OMIM RCV000001403 SCV000021553 pathogenic Leber congenital amaurosis 10 2007-07-01 no assertion criteria provided literature only
UW Hindbrain Malformation Research Program,University of Washington RCV000001402 SCV000256371 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research

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