Submissions for variant NM_000033.4(ABCD1):c.1781-5C>G

gnomAD frequency: 0.00008  dbSNP: rs781920026

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002314426	SCV000847996	uncertain significance	Inborn genetic diseases	2016-10-11	criteria provided, single submitter	clinical testing	The c.1781-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 8 in the ABCD1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6479 samples with coverage at this position. The BDGP splice prediction software does not produce a reliable prediction for the nearby native splice acceptor site. The ESEfinder splice prediction software predicts a weakening in the native splice acceptor site efficiency. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001474566	SCV001678737	likely benign	Adrenoleukodystrophy	2024-07-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001474566	SCV002045771	likely benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002263954	SCV002546209	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	ABCD1: BP4