ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)

gnomAD frequency: 0.00080  dbSNP: rs193922096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029287 SCV000051933 likely benign Adrenoleukodystrophy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000029287 SCV000630001 likely benign Adrenoleukodystrophy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311525 SCV000847046 likely benign Inborn genetic diseases 2016-07-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV000029287 SCV001332604 likely benign Adrenoleukodystrophy 2017-06-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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