ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.863G>C (p.Gly288Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134718 SCV003816561 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2022-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003274336 SCV003955316 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.863G>C (p.G288A) alteration is located in exon 9 (coding exon 9) of the OXCT1 gene. This alteration results from a G to C substitution at nucleotide position 863, causing the glycine (G) at amino acid position 288 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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