ClinVar Miner

Submissions for variant NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)

gnomAD frequency: 0.00030  dbSNP: rs201273972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281568 SCV000339947 uncertain significance not provided 2016-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000807309 SCV000947356 pathogenic Deficiency of isobutyryl-CoA dehydrogenase 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 156 of the ACAD8 protein (p.Ala156Ser). This variant is present in population databases (rs201273972, gnomAD 0.1%). This missense change has been observed in individual(s) with clinical features of isobutyryl-CoA dehydrogenase deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 286498). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000807309 SCV001529510 uncertain significance Deficiency of isobutyryl-CoA dehydrogenase 2018-11-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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