ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln)

gnomAD frequency: 0.00005  dbSNP: rs142427515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001954818 SCV002205015 uncertain significance Citrin deficiency 2022-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 184 of the SLC25A13 protein (p.Arg184Gln). This variant is present in population databases (rs142427515, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SLC25A13-related conditions. 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 SLC25A13 protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003968641 SCV004781810 uncertain significance SLC25A13-related disorder 2024-01-03 no assertion criteria provided clinical testing The SLC25A13 c.551G>A variant is predicted to result in the amino acid substitution p.Arg184Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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