Submissions for variant NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)

gnomAD frequency: 0.00035  dbSNP: rs149436747

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000309125	SCV000406327	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000612544	SCV000714062	likely benign	not specified	2018-03-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000309125	SCV001017625	benign	Very long chain acyl-CoA dehydrogenase deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402045	SCV002708280	likely benign	Inborn genetic diseases	2022-05-20	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.
CeGaT Center for Human Genetics Tuebingen	RCV003221917	SCV003917882	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	ACADVL: BP4, BP7
Natera, Inc.	RCV000309125	SCV001455188	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2020-01-10	no assertion criteria provided	clinical testing