ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1125del (p.Trp377fs)

dbSNP: rs1440898011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822107 SCV002064323 pathogenic not provided 2017-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542490 SCV003009457 pathogenic Methylmalonic acidemia with homocystinuria, type cblJ 2023-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp377Glyfs*27) 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). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1335925). For these reasons, this variant has been classified as Pathogenic.

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