Submissions for variant NM_000033.4(ABCD1):c.258C>T (p.Val86=)

gnomAD frequency: 0.00061  dbSNP: rs200660869

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000283168	SCV000481964	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000283168	SCV000630003	benign	Adrenoleukodystrophy	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585583	SCV000693369	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ABCD1: BP4, BP7, BS2
Ambry Genetics	RCV002314111	SCV000849396	likely benign	Inborn genetic diseases	2016-09-20	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001193	SCV001158351	benign	not specified	2019-04-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000585583	SCV001788352	likely benign	not provided	2018-10-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000283168	SCV002045681	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000585583	SCV002035930	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585583	SCV002038410	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000283168	SCV002084596	likely benign	Adrenoleukodystrophy	2020-01-16	no assertion criteria provided	clinical testing