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NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) AND Macular dystrophy, vitelliform, 4

Significance: Pathogenic
ClinVar: RCV000149547

Variant: NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg)

Type: Variant
Allele: NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) 171848
Gene:
Type: single nucleotide variant
Location: Chr6: 76018812 - assembly GRCh38
Chr6: 76728529 - assembly GRCh37
References: dbSNP: 713993045
OMIM: 602870.0001
UniProtKB: Q17R60#VAR_072669

Condition

Disease: Macular dystrophy, vitelliform, 4

Citation

    In affected members from 3 multiplex families with autosomal dominant vitelliform macular dystrophy (VMD4; 616151), 2 French and 1 Spanish, Manes et al. (2013) identified heterozygosity for a c.713T-G transversion in exon 7 of the IMPG1 gene, resulting in a leu238-to-pro (L238P) substitution at a conserved residue in the start of the N-terminal SEA1 domain. The mutation segregated with disease in all 3 families and was not found in public SNP databases or in 114 ethnically matched controls. Haplotype analysis demonstrated that all affected individuals shared the same alleles of the 2 markers flanking IMPG1, D6S456 and D6S1589, indicating that the 3 families might be distantly related.
PMID:23993198