ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.910G>C (p.Ala304Pro)

dbSNP: rs1557053214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275738 SCV002562281 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing Identified in a male with X-ALD who also harbored a second ABCD1 variant (Liu et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34826210)

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