ClinVar Miner

Submissions for variant NM_145200.4(CABP4):c.646C>T (p.Arg216Ter) (rs150115958)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760417 SCV000890295 pathogenic not provided 2018-11-08 criteria provided, single submitter clinical testing he R216X variant in the CABP4 gene has been reported previously in association with autosomal recessive cone-rod synaptic disorder when present in the homozygous state or when in trans with another disease causing variant (Littink et al., 2009; Smirnov et al., 2018). This variant is predicted to cause loss of normal protein function through protein truncation (Littink et al., 2009). Functional studies demonstrate a damaging effect with reduction in Ca(2+) channel availability and loss of Ca(2+) channel function (Shaltiel et al., 2012). The R216X variant is observed in 2/16,714 (0.012%) alleles from individuals of Finnish European background and in 11/188,328 (0.0058%) global alleles in large population cohorts (Lek et al., 2016). We interpret R216X as a pathogenic variant.
OMIM RCV000171132 SCV000223699 pathogenic Congenital stationary night blindness, type 2B 2013-10-01 no assertion criteria provided literature only
Human Genetics - Radboudumc,Radboudumc RCV000171132 SCV000804603 pathogenic Congenital stationary night blindness, type 2B 2016-09-01 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787550 SCV000926525 likely pathogenic Cone-rod dystrophy 2018-04-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787800 SCV000926810 pathogenic Achromatopsia 2018-04-01 no assertion criteria provided research

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