ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1938G>A (p.Ala646=)

gnomAD frequency: 0.00003  dbSNP: rs144996101
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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 RCV001410416 SCV001612462 likely benign Adrenoleukodystrophy 2024-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413975 SCV002720806 likely benign Inborn genetic diseases 2017-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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