ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707417 SCV000836515 pathogenic METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 2017-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln530*) in the ABCD4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs767795583, ExAC 0.002%). This variant has not been reported in the literature in individuals with ABCD4-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ABCD4 are known to be pathogenic (PMID: 22922874). For these reasons, this variant has been classified as Pathogenic.

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