T312M (p.Thr312Met) variant of GUCY2D (Retinal guanylyl cyclase 1)
T312M (p.Thr312Met) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T312M (p.Thr312Met) variant details
- p.Thr312Met
- rs61749673
- ClinGen CA226155
- ClinVar RCV000084906
- ClinVar RCV001250818
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.76
- MetaSVM 0.72
- CADD 26.00
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic (in LCA1)
- UniProt: Pathogenic (in LCA1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (PMID 21602930)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)