ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) (rs767774362)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424844 SCV000511940 likely pathogenic not provided 2016-09-21 criteria provided, single submitter clinical testing Q398X variant that is likely pathogenic was identified in the ACADS gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q398X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Q398X is predicted to cause loss of normal protein function through protein truncation. In summary, we interpret this variant as likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000509385 SCV000756734 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-12-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ACADS gene (p.Gln398*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 15 amino acids of the ACADS protein. This variant is present in population databases (rs767774362, ExAC 0.006%). This variant has been observed in individual(s) with SCAD deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 377423). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.
Illumina Clinical Services Laboratory,Illumina RCV000509385 SCV000915579 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2018-10-15 criteria provided, single submitter clinical testing The ACADS c.1192C>T (p.Gln398Ter) variant is a stop-gained variant, which was observed by ICSL 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 for this variant, it 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. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for SCAD deficiency.
GenomeConnect, ClinGen RCV000509385 SCV000607214 not provided Deficiency of butyryl-CoA dehydrogenase no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Counsyl RCV000509385 SCV000800549 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-06-16 no assertion criteria provided clinical testing

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