ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) (rs398123100)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077950 SCV000109779 pathogenic not provided 2013-06-03 criteria provided, single submitter clinical testing
Invitae RCV001063464 SCV001228311 pathogenic Adrenoleukodystrophy 2019-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln466*) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with adrenomyeloneuropathy (PMID: 7581394). ClinVar contains an entry for this variant (Variation ID: 92314). Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). For these reasons, this variant has been classified as Pathogenic.

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