ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln) (rs63750457)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413984 SCV000490389 likely pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing The R1164Q variant in the ABCC6 gene has been previously reported in both the homozygous and compound heterozygous state with another ABCC6 variant (Miksch et al., 2005; Vanakker et al., 2008; Dibi et al., 2016). It 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. R1164Q is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. ACMG criteria therefor result in classifying this variant as likely pathogenic; and the unlikely possibility that it is benign cannot be excluded.
PXE International RCV000499335 SCV000589063 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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