ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.910dup (p.Leu304fs) (rs1057516606)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409916 SCV000485938 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2016-03-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000409916 SCV000914565 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2018-10-31 criteria provided, single submitter clinical testing The ACADS c.910dupC (p.Leu304ProfsTer34) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database in a region of good sequencing coverage. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the ACADS p.Leu304ProfsTer34 variant is classified as a variant of unknown significance but suspicious for pathogenicity for SCAD deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000409916 SCV001391212 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu304Profs*34) in the ACADS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACADS-related conditions. ClinVar contains an entry for this variant (Variation ID: 370584). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACADS cause disease. 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.

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