ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) (rs199476185)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000032536 SCV000448817 uncertain significance Bietti crystalline corneoretinal dystrophy 2017-04-27 criteria provided, single submitter clinical testing The CYP4V2 c.237G>T (p.Glu79Asp) missense variant has been reported in a compound heterozygous state in one individual with Bietti crystalline dystrophy (Li et al. 2004). The p.Glu79Asp variant was absent from 100 control chromosomes and is reported at a frequency of 0.00416 in the East Asian population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Glu79Asp variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Bietti crystalline dystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Clinical Services Laboratory,Illumina RCV000352220 SCV000448818 uncertain significance Corneal dystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Blueprint Genetics RCV001074796 SCV001240393 uncertain significance Retinal dystrophy 2019-07-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092654 SCV001249264 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001092654 SCV001709508 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing
GeneReviews RCV000032536 SCV000056202 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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