Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599010 | SCV000710002 | likely pathogenic | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing | The c.3150+1G>T variant in the FYCO1 gene has been reported previously in the homozygous state in three individuals from a consanguineous family with autosomal recessive congenital cataracts (Chen et al., 2011). This splice site variant destroys the canonical splice donor site in intron 9. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.3150+1G>T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.3150+1G>T as a likely pathogenic variant. |
OMIM | RCV001613393 | SCV000044913 | pathogenic | Cataract 18 | 2011-06-10 | no assertion criteria provided | literature only |