ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu)

gnomAD frequency: 0.00010  dbSNP: rs199963793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000421540 SCV000511706 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000558102 SCV000645151 uncertain significance Deficiency of 2-methylbutyryl-CoA dehydrogenase 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 396 of the ACADSB protein (p.Lys396Glu). This variant is present in population databases (rs199963793, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of short/branched chain acyl-CoA dehydrogenase deficiency (PMID: 30626930; internal data). ClinVar contains an entry for this variant (Variation ID: 377304). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACADSB protein function. 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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