ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1438C>A (p.Pro480Thr)

dbSNP: rs2148396062
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756550 SCV001985455 uncertain significance not provided 2024-08-11 criteria provided, single submitter clinical testing Observed as hemizygous in an asymptomatic male identified by family screening; VLCFA were slightly elevated and D3-C22:0 loading test found that VLCFA metabolism was not significantly impaired supporting that this variant is not associated with X-ALD (PMID: 34946879); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34946879, 36114283, 24480483, 33690217)

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