Submissions for variant NM_024513.4(FYCO1):c.4319C>T (p.Thr1440Ile)

gnomAD frequency: 0.00446  dbSNP: rs41289612

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000332284	SCV000444647	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.
GeneDx	RCV000842474	SCV000984496	likely benign	not provided	2024-12-17	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000332284	SCV001720640	benign	Cataract 18	2024-12-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002520125	SCV003526954	uncertain significance	Inborn genetic diseases	2021-10-26	criteria provided, single submitter	clinical testing	The c.4319C>T (p.T1440I) alteration is located in exon 17 (coding exon 16) of the FYCO1 gene. This alteration results from a C to T substitution at nucleotide position 4319, causing the threonine (T) at amino acid position 1440 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000842474	SCV004154339	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	FYCO1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000842474	SCV005260800	likely benign	not provided		criteria provided, single submitter	not provided