ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) (rs63749856)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255838 SCV000321368 pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing The G1302R pathogenic variant in the ABCC6 gene has been reported previously in association with pseudoxanthoma elasticum (Le Saux et al., 2001; Miksch et al., 2005; Pfender et al., 2007; Shi et al., 2007; Ramsay et al., 2009). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1302R variant 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. Functional studies demonstrate that this variant, located at a position within an ATP binding region of the ABC transporter 2 domain, disrupts the ABCC6-mediated transport of glutathione conjugates (Ilias et al., 2002). 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. We interpret G1302R as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000762958 SCV000893396 pathogenic Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Generalized arterial calcification of infancy 2 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000006957 SCV000027153 pathogenic Pseudoxanthoma elasticum 2002-10-01 no assertion criteria provided literature only
PXE International RCV000006957 SCV000589086 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
GenomeConnect, ClinGen RCV000006957 SCV000607216 not provided Pseudoxanthoma elasticum no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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