ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1100-6G>T

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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 RCV003029528 SCV003325613 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2022-03-14 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with OXCT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 11 of the OXCT1 gene. It does not directly change the encoded amino acid sequence of the OXCT1 protein.

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