Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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. |
Eurofins Ntd Llc |
RCV000726829 | SCV000703391 | pathogenic | not provided | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular 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, |
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. |
Revvity Omics, |
RCV000032548 | SCV002018134 | pathogenic | Bietti crystalline corneoretinal dystrophy | 2020-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726829 | SCV002107214 | pathogenic | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Reported as the most common pathogenic variant among individuals of East Asian background, accounting for 62.6% of pathogenic variants identified in one study (Zhang et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27658286, 25629076, 15042513, 23793346, 22693542, 15860296, 26865810, 24480711, 28848678, 16088246, 28763560, 30029497, 19508456, 30609409, 31054281, 31872526, 31960602, 33964374, 33857831, 33090715, 33306817, 33781268, 34068831, 30429639, 15937078) |
Gene |
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 |