ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)

dbSNP: rs777002501
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666229 SCV000790487 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000666229 SCV001395667 pathogenic Deficiency of butyryl-CoA dehydrogenase 2023-03-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt ACADS protein function. ClinVar contains an entry for this variant (Variation ID: 551228). This missense change has been observed in individuals with short chain acyl-CoA dehydrogenase (SCAD) deficiency (PMID: 16926354, 18676165, 22424739; Invitae). This variant is present in population databases (rs777002501, gnomAD 0.04%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 169 of the ACADS protein (p.Thr169Pro).
Baylor Genetics RCV000666229 SCV001526916 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2018-01-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000666229 SCV002033268 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000666229 SCV002761796 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2022-04-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000666229 SCV003822460 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2022-05-30 criteria provided, single submitter clinical testing

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