ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)

dbSNP: rs1603233113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799162 SCV000938814 uncertain significance Adrenoleukodystrophy 2018-11-15 criteria provided, single submitter clinical testing This variant has been observed to be hemizygous in an individual affected with X-linked adrenoleukodystrophy (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant is not present in population databases (ExAC no frequency). This variant, c.988_1005del, results in the deletion of 6 amino acid(s) of the ABCD1 protein (p.Leu330_Met335del), but otherwise preserves the integrity of the reading frame.

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