Submissions for variant NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu)

dbSNP: rs149467828

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV001200702	SCV001365059	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2019-11-01	criteria provided, single submitter	clinical testing	The NM_000018.3:c.956C>T (NP_000009.1:p.Ser319Leu) [GRCH38: NC_000017.11:g.7222744C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.
Invitae	RCV001200702	SCV001411955	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2022-08-07	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 319 of the ACADVL protein (p.Ser319Leu). This variant is present in population databases (rs149467828, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 932762). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV001200702	SCV001810247	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001586040	SCV001819582	uncertain significance	not provided	2019-07-19	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV001586040	SCV004700360	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ACADVL: PM1, PM2
Natera, Inc.	RCV001200702	SCV002088769	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2020-02-21	no assertion criteria provided	clinical testing