ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6729+5_6729+19del (rs749526785)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000497773 SCV000700938 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000497773 SCV000589300 likely pathogenic not provided 2016-09-20 criteria provided, single submitter clinical testing The c.6729+5_6729+19del15 variant has been reported in association with ABCA4-related eye disorders (Littink et al., 2010; Fujinami et al. 2013; Duncker et al., 2015). Upon examining the phenotypes and ages-of-onset associated with different variants, it was observed that the c.6729+5_6729+19del15 variant is associated with a very early age-of-onset with the median age-of-onset being 5 years (Fakin et al., 2016). The c.6729+5_6729+19del15 variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.6729+5_6729+19del15 either damages or destroys the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is a likely pathogenic variant.
Human Genetics - Radboudumc,Radboudumc RCV000678515 SCV000804587 uncertain significance Retinitis pigmentosa 19 2016-09-01 no assertion criteria provided clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416441 SCV000494173 pathogenic Cone-rod dystrophy 3 no assertion criteria provided research This variant was identified as homozygous in an individual with cone rod dystrophy.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504933 SCV000599022 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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