ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.2026T>C (p.Ter676Gln)

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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 RCV002621091 SCV003511806 uncertain significance Citrin deficiency 2022-05-21 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the SLC25A13 mRNA. It is expected to extend the length of the SLC25A13 protein by 16 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SLC25A13-related conditions. 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.

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