ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1A>G (p.Met1Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055844 SCV001220255 pathogenic Adrenoleukodystrophy 2019-02-07 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ABCD1 mRNA. The next in-frame methionine is located at codon 67. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Disruption of the initiator codon has been observed in an individual affected with adrenoleukodystrophy (PMID: 22176151) and also segregated with adrenoleukodystrophy in a family (PMID: 18306728). This variant has been reported to affect ABCD1 protein function (PMID: 22176151, 18206987). For these reasons, this variant has been classified as Pathogenic.

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