ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003531448 SCV004286052 pathogenic Methylmalonic acidemia with homocystinuria, type cblJ 2023-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. This variant is present in population databases (rs769298254, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg536*) in the ABCD4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD4 are known to be pathogenic (PMID: 22922874).

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