ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2390G>A (p.Gly797Glu) (rs768570780)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493144 SCV000582420 likely pathogenic not provided 2015-09-25 criteria provided, single submitter clinical testing The likely pathogenic G797E variant has not been reported previously in association with PXE, but was also 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 first ATP binding domain that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. In addition, a missense variant in a nearby residue (N793K) has 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. Therefore, this variant is likely pathogenic; although the possibility that it is benign cannot be excluded

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