Submissions for variant NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)

gnomAD frequency: 0.00060  dbSNP: rs150151955

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000426591	SCV000511131	likely benign	not provided	2016-10-27	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990974	SCV000630013	benign	Adrenoleukodystrophy	2025-01-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000426591	SCV000693370	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ABCD1: BS1, BS2
Ambry Genetics	RCV002314128	SCV000849395	benign	Inborn genetic diseases	2017-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Mendelics	RCV000990974	SCV001142050	likely benign	Adrenoleukodystrophy	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001199	SCV001158359	likely benign	not specified	2019-04-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000426591	SCV001764291	likely benign	not provided	2018-10-12	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30487145, 33151932)
Genome-Nilou Lab	RCV000990974	SCV002045757	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000426591	SCV001740826	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000426591	SCV001799615	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000426591	SCV001957331	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000426591	SCV001974636	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000990974	SCV002084612	likely benign	Adrenoleukodystrophy	2020-02-25	no assertion criteria provided	clinical testing