Submissions for variant NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV002308456	SCV002603389	likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	2022-01-06	criteria provided, single submitter	clinical testing	NM_000018.3(ACADVL):c.1522C>T(Q508*) is expected to be pathogenic in the context of very-long-chain acyl-CoA dehydrogenase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ACADVL, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002308456	SCV003196349	pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	2023-12-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln508*) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 34704412). ClinVar contains an entry for this variant (Variation ID: 1726981). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV002308456	SCV004210889	likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	2024-01-22	criteria provided, single submitter	clinical testing