ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys)

gnomAD frequency: 0.00030  dbSNP: rs141476300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488185 SCV000575350 likely pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403126 SCV004120107 uncertain significance FYCO1-related condition 2023-09-21 criteria provided, single submitter clinical testing The FYCO1 c.265C>T variant is predicted to result in the amino acid substitution p.Arg89Cys. This variant was reported in the homozygous state in two siblings with with congenital cataracts (Family IrCC4 in Shirzadeh et al. 2022. PubMed ID: 36274208). This variant was also reported in the homozygous state in an individual with congenial cataracts from a childhood glaucoma cohort (Patient 17 in Stingl et al. 2021. PubMed ID: 35011756). This variant is reported in 0.092% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-46021220-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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