Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488185 | SCV000575350 | likely pathogenic | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |