ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.802-8_810delinsGC (rs207482233)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000032548 SCV000448843 pathogenic Bietti crystalline corneoretinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing The c.802-8_810delTCATACAGGTCATCGCTinsGC variant, also described in the literature as c.802-8_810delinsG, occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.802-8_810delTCATACAGGTCATCGCTinsGC variant is the most common variant associated with Bietti crystalline dystrophy in the Japanese and Chinese populations, accounting for up to 83% of disease alleles (Park et al. 2016). The variant has been reported in at least nine studies in which it is found in at least 130 patients including 64 in a homozygous state, 65 in a compound heterozygous state and one individual in a heterozygous state in whom a second allele has not been detected (Li et al. 2004; Wada et al. 2006; Lai et al. 2007; Xiao et al. 2011; Yin et al. 2014; Meng et al. 2014; Tian et al. 2015; Park et al. 2016; Astuti et al. 2016). The variant was absent from 146 controls but is reported at a frequency of 0.00496 in the East Asian population of the 1000 Genomes Project. Due to the potential impact of splice acceptor variants and the supporting evidence from the literature, the c.802-8_810delTCATACAGGTCATCGCTinsGC variant is classified as pathogenic for Bietti crystalline dystrophy.
Illumina Clinical Services Laboratory,Illumina RCV000355196 SCV000448844 uncertain significance Corneal Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726829 SCV000703391 pathogenic not provided 2016-11-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000032548 SCV000731492 pathogenic Bietti crystalline corneoretinal dystrophy 2017-02-06 criteria provided, single submitter clinical testing The c.802-8_810delinsGC (NM_207352.3 c.802-8_810delinsGC) variant in CYP4V2 has been reported in over 60 homozygous and compound heterozygous individuals with B ietti crystalline dystrophy and related disorders and is the most common variant associated with this disease in East Asian populations (Wada 2005, Lin 2005, La i 2007, Yokoi 2010, Xiao 2011, Wang 2012, Chung 2013, Fu 2013, Yin 2014, Meng 20 14, Tian 2015, Astuti 2015, and Park 2016). This variant has also been reported as pathogenic in ClinVar (Variation ID#39271). This variant has been identified in 0.2% (16/8520) of East Asian chromosomes by chromosomes by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org). This variant alters the c anonical splice site, and therefore is expected to impact splicing and lead to a n absent or truncated protein. In summary, this variant meets criteria to be cla ssified as pathogenic for Bietti crystalline dystrophy and related disorders in an autosomal recessive manner based upon its biallelic occurrence in patients wi th this disease and predicted functional impact.
Blueprint Genetics RCV001075704 SCV001241332 pathogenic Retinal dystrophy 2019-04-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000032548 SCV001573765 pathogenic Bietti crystalline corneoretinal dystrophy 2021-04-08 criteria provided, single submitter research The CYP4V2 c.802-8_810delinsGC variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1, PM3. Based on this evidence we have classified this variant as Pathogenic.
GeneReviews RCV000032548 SCV000056215 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000032548 SCV000172674 pathogenic Bietti crystalline corneoretinal dystrophy no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000032548 SCV000246149 pathogenic Bietti crystalline corneoretinal dystrophy 2013-06-14 no assertion criteria provided literature only

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