ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)

dbSNP: rs1603233089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807056 SCV000947084 pathogenic Adrenoleukodystrophy 2024-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln307*) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with ALD-related disorders (PMID: 15643618, 15800013, 23768953). ClinVar contains an entry for this variant (Variation ID: 651649). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003132063 SCV003815457 pathogenic not provided 2022-09-15 criteria provided, single submitter clinical testing

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