Submissions for variant NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met)

gnomAD frequency: 0.00271  dbSNP: rs146711260

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001147244	SCV000645127	benign	Cataract 18	2023-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000828289	SCV000969973	likely benign	not provided	2018-05-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV001147244	SCV001308033	likely benign	Cataract 18	2018-01-13	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.
Fulgent Genetics, Fulgent Genetics	RCV001147244	SCV002807459	likely benign	Cataract 18	2021-08-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942816	SCV004760707	benign	FYCO1-related condition	2020-06-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).