ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp)

gnomAD frequency: 0.00265  dbSNP: rs143704916
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001085929 SCV000444687 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085929 SCV000645128 benign Cataract 18 2024-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000828433 SCV000970121 benign not provided 2021-02-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000828433 SCV001746463 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FYCO1: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000828433 SCV005260812 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003922511 SCV004745757 likely benign FYCO1-related disorder 2020-07-22 no assertion criteria provided 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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