ClinVar Miner

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

gnomAD frequency: 0.00446  dbSNP: rs41289612
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Total submissions: 5
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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 2022-12-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000332284 SCV001720640 benign Cataract 18 2020-07-27 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

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