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

gnomAD frequency: 0.00021  dbSNP: rs149684063

Total submissions: 10

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 Laboratory Services, 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 Laboratory Services, 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 Center for Human Genetics Tuebingen	RCV000132718	SCV001249265	uncertain significance	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000132718	SCV001733227	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
3billion	RCV000032541	SCV002572707	uncertain significance	Bietti crystalline corneoretinal dystrophy	2022-09-01	criteria provided, single submitter	clinical testing	The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.074%). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with CYP4V2-related disorder (PMID: 15042513). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Dept Of Ophthalmology, Nagoya University	RCV001074793	SCV004706578	likely pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
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.