ClinVar Miner

Submissions for variant NM_033068.3(ACP4):c.428C>T (p.Thr143Met) (rs546603773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000489568 SCV000494663 pathogenic Amelogenesis imperfecta, type IJ 2016-10-28 no assertion criteria provided research The variant was identified in ExAC in 9 out of 89042 alleles (always in a heterozygous state) and has been assigned rs546603773 with 0.02% MAF in dbSNP146. The variant is predicted to be damaging by multiple pathogenicity prediciton softwares including Polyphen-2, SIFT, CADD. The residue predicted to be affected is conserved in paralogues and mammalian orthologues in all species analysed, except for horse in which the region surrounding the residue is not present. The residue is in the extracellular domain (residues 29-390) of ACPT. The substitution of threonine at residue 143 for methionine (NP_149059.1) will alter the residue from a small polar to a larger nonpolar one (BLOSUM62 score -1).

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