ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) (rs45568335)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443723 SCV000521558 uncertain significance not provided 2018-01-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCD4 gene. The R471W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R471W variant was not observed at any significant frequency 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. The R471W 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant
Fulgent Genetics,Fulgent Genetics RCV000763942 SCV000894888 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763942 SCV001113750 likely benign Methylmalonic acidemia with homocystinuria, type cblJ 2020-11-23 criteria provided, single submitter clinical testing
Mendelics RCV000763942 SCV001139484 likely benign Methylmalonic acidemia with homocystinuria, type cblJ 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000443723 SCV001371596 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing

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