Submissions for variant NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)

gnomAD frequency: 0.00089  dbSNP: rs141950964

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174190	SCV000225451	benign	not specified	2015-02-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270346	SCV000448868	likely benign	Bietti crystalline corneoretinal dystrophy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000327801	SCV000448869	uncertain significance	Corneal dystrophy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000903076	SCV001047527	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888618	SCV004706604	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Clinical Genetics, Academic Medical Center	RCV000174190	SCV001922931	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000903076	SCV001968728	likely benign	not provided		no assertion criteria provided	clinical testing