ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3150+1G>T

gnomAD frequency: 0.00001  dbSNP: rs766522434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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