ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.498_520del (p.Val167fs)

dbSNP: rs398123112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077966 SCV000109795 pathogenic not provided 2012-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000077966 SCV001142894 likely pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/204445 chr).
Genome-Nilou Lab RCV001800384 SCV002045805 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001800384 SCV003312681 pathogenic Adrenoleukodystrophy 2022-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 92327). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val167Leufs*20) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843).

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