Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Leeds Amelogenesis Imperfecta Research Group, |
RCV000449635 | SCV000328938 | likely pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 2016-05-11 | no assertion criteria provided | research | Variant identified in 5 families with amelogenesis imperfecta, variant segregates with phenotype in all cases. Pathogenicity predictions by SIFT, Polyphen-2 (HumVar), Mutation Taster, CADD v1.3 and Grantham score all suggest that the NM_031889.2:c.92T>G substitution may be pathogenic. The affected residue lies within the signal peptide sequence of ENAM. |
OMIM | RCV000449635 | SCV000588156 | pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 2017-08-03 | no assertion criteria provided | literature only |