ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3415G>A (p.Ala1139Thr) (rs63750146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426908 SCV000521124 likely pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing The A1139T variant in the ABCC6 gene also has been previously reported in patients with PXE, one of whom was homozygous for this variant (Pfendner et al., 2007). A1139T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position within the topological cytoplasmic (IC8) domain that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (R1138W/P/Q) have been reported in the Human Gene Mutation Database in association with PXE (Stenson et al., 2014), supporting the functional importance of this region of the protein.
PXE International RCV000499199 SCV000589059 likely pathogenic Pseudoxanthoma elasticum criteria provided, single submitter research

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