ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.945G>A (p.Ser315=)

gnomAD frequency: 0.00037  dbSNP: rs145545199
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876378 SCV001018945 benign Adrenoleukodystrophy 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000876378 SCV001329851 likely benign Adrenoleukodystrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001619856 SCV001844877 benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000876378 SCV002045862 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444961 SCV002683210 likely benign Inborn genetic diseases 2017-11-29 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.
Natera, Inc. RCV000876378 SCV002084619 likely benign Adrenoleukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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