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
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
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.
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.
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

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