ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1628del (p.Pro543fs) (rs1603235321)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000787038 SCV000925953 pathogenic Adrenoleukodystrophy 2019-03-25 criteria provided, single submitter clinical testing This frameshift variant results in a premature stop codon in exon 7 likely leading to nonsense-mediated decay and lack of protein production. This ABCD1 variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. This variant is considered pathogenic.

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