ClinVar Miner

Submissions for variant NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)

dbSNP: rs398122392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760444 SCV000890328 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing The W157X variant in the CRYGC gene has been reported previously to segregate with autosomal dominant nuclear cataracts and mircrocornea in a four-generation Chinese family (Zhang et al., 2009). Functional studies with transfected W157X cells demonstrate self-aggregation and reduction in solubility that would be expected to generate light-scattering particles, compromising the transparency of the cells and their assemblies (Talla et. al, 2008). This variant is predicted to cause loss of normal protein function through protein truncation where the last 18 amino acid residues are lost. or nonsense-mediated mRNA decay. The W157X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W157X as a pathogenic variant.
Miami Human Genetics, University Of Miami Miller School Of Medicine RCV000056309 SCV005043114 pathogenic Cataract 2, multiple types 2024-05-09 criteria provided, single submitter research
OMIM RCV000056309 SCV000087478 pathogenic Cataract 2, multiple types 2009-01-01 no assertion criteria provided literature only

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