ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) (rs149684063)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000032541 SCV000267285 uncertain significance Bietti crystalline corneoretinal dystrophy 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000032541 SCV000448827 uncertain significance Bietti crystalline corneoretinal dystrophy 2017-04-27 criteria provided, single submitter clinical testing The CYP4V2 c.367A>G (p.Met123Val) missense variant has been reported in a compound heterozygous state in one individual with Bietti crystalline dystrophy (Li et al. 2004). The p.Met123Val variant was absent from 100 controls but is reported at a frequency of 0.00496 in the East Asian population of the 1000 Genomes Project. The evidence for this variant is limited. The p.Met123Val 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 RCV000260520 SCV000448828 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 RCV001074793 SCV001240390 uncertain significance Retinal dystrophy 2019-07-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000132718 SCV001249265 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV000132718 SCV001733227 benign not provided 2020-11-23 criteria provided, single submitter clinical testing
GeneReviews RCV000032541 SCV000056208 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 RCV000132718 SCV000172672 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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