ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.225_245del (p.Leu76_Leu82del)

dbSNP: rs1064794778
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483151 SCV000569925 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing The c.225_245del21 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,000 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 c.225_245del21 variant results in an in-frame deletion of 7 amino acid residues, denoted p.Leu76_Leu82del. Additionally, other in-frame deletions in nearby residues have been reported in the Human Gene Mutation Database in association with ABCD1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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