ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.644C>T (p.Ala215Val)

gnomAD frequency: 0.00002  dbSNP: rs201752548
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233999 SCV001406624 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2023-07-07 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with OXCT1-related conditions (PMID: 21296660). This variant is present in population databases (rs201752548, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 215 of the OXCT1 protein (p.Ala215Val). ClinVar contains an entry for this variant (Variation ID: 960469). 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. Experimental studies have shown that this missense change affects OXCT1 function (PMID: 21296660). 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 OXCT1 protein function.

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