ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1202C>T (p.Ala401Val)

gnomAD frequency: 0.00001  dbSNP: rs746345071
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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 RCV002023404 SCV002299237 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2021-02-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of Succinyl CoA:3-oxoacid CoA transferase deficiency (Invitae). This variant is present in population databases (rs746345071, ExAC 0.001%). This sequence change replaces alanine with valine at codon 401 of the OXCT1 protein (p.Ala401Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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