ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.869G>A (p.Arg290His)

gnomAD frequency: 0.00269  dbSNP: rs146311777
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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 RCV000401368 SCV000444700 likely benign Cataract 18 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.
Invitae RCV000401368 SCV003478637 likely benign Cataract 18 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520126 SCV003701974 uncertain significance Inborn genetic diseases 2022-05-26 criteria provided, single submitter clinical testing The c.869G>A (p.R290H) alteration is located in exon 8 (coding exon 7) of the FYCO1 gene. This alteration results from a G to A substitution at nucleotide position 869, causing the arginine (R) at amino acid position 290 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003430882 SCV004154344 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FYCO1: BP4
PreventionGenetics, part of Exact Sciences RCV003922512 SCV004739410 likely benign FYCO1-related disorder 2019-10-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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