ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1933del (p.Gln645fs)

dbSNP: rs1603236013
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008624 SCV001168398 likely pathogenic not provided 2022-07-14 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 101 amino acids are lost and replaced with 45 incorrect amino acids; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001862753 SCV002244389 pathogenic Adrenoleukodystrophy 2021-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ABCD1 protein in which other variant(s) (p.Gly678Argfs*56) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 817493). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln645Argfs*46) in the ABCD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 101 amino acid(s) of the ABCD1 protein.

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