ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) (rs128624224)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723537 SCV000109783 pathogenic not provided 2013-10-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000012059 SCV000918373 pathogenic Adrenoleukodystrophy 2019-10-23 criteria provided, single submitter clinical testing Variant summary: ABCD1 c.1552C>T (p.Arg518Trp) results in a non-conservative amino acid change located in the AAA+ ATPase domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 177823 control chromosomes (gnomAD and publication). c.1552C>T has been reported in the literature in multiple individuals affected with Adrenoleukodystrophy including symptomatic female carriers (Chu_2015, Fanen_1994, Feigenbaum_1996, Guettsches_2010, Guimaraes_2002). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723537 SCV001249771 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
OMIM RCV000012059 SCV000032293 pathogenic Adrenoleukodystrophy 1994-08-01 no assertion criteria provided literature only

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