ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln) (rs72653794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418691 SCV000521126 likely pathogenic not provided 2016-09-06 criteria provided, single submitter clinical testing The R807Q likely pathogenic variant has been reported in the compound heterozgyous state with another variant in patients with PXE (Miksch et al., 2005; Garcia-Fernandez et al., 2008). The R807Q variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R807Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants at the same residue (R807W) and in nearby residues (V810M, T811M) 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. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
PXE International RCV000499152 SCV000589010 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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