ClinVar Miner

Submissions for variant NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) (rs1060499539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 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

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