ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) (rs72650700)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191057 SCV000245446 pathogenic Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste 2014-04-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in a 39-year-old male with hereditary anemia, angioid streaks on retina, possible pseudoxanthoma elasticum, fatigue, chronic joint pain. Variant was in trans with a common missense variant [c.793A>G (p.R265G)].
GeneDx RCV000429924 SCV000516089 pathogenic not provided 2018-07-09 criteria provided, single submitter clinical testing The p.R518X nonsense variant in the ABCC6 gene has been reported previously in association with PXE (Meloni et al., 2001). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196249 SCV001366804 pathogenic Primary dilated cardiomyopathy; Chronic pancreatitis 2019-08-23 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM5,PM1,PP2,PP3,PM2. This variant was detected in heterozygous state.
OMIM RCV000023279 SCV000044570 pathogenic Generalized arterial calcification of infancy 2 2012-01-13 no assertion criteria provided literature only
OMIM RCV000023280 SCV000044571 pathogenic Pseudoxanthoma elasticum 2012-01-13 no assertion criteria provided literature only
PXE International RCV000023280 SCV000588966 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
GenomeConnect, ClinGen RCV000023280 SCV000607215 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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