ClinVar Miner

Submissions for variant NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)

gnomAD frequency: 0.00004  dbSNP: rs200234092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001108303 SCV001265524 uncertain significance Deficiency of isobutyryl-CoA dehydrogenase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001108303 SCV003452314 uncertain significance Deficiency of isobutyryl-CoA dehydrogenase 2022-02-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACAD8-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACAD8 protein function. ClinVar contains an entry for this variant (Variation ID: 880204). This variant is present in population databases (rs200234092, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 383 of the ACAD8 protein (p.Ala383Thr).
Ambry Genetics RCV002558083 SCV003725337 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.1147G>A (p.A383T) alteration is located in exon 10 (coding exon 10) of the ACAD8 gene. This alteration results from a G to A substitution at nucleotide position 1147, causing the alanine (A) at amino acid position 383 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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