ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val)

dbSNP: rs1388764303
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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 RCV001363787 SCV001559913 uncertain significance Citrin deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 499 of the SLC25A13 protein (p.Ile499Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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.
Natera, Inc. RCV001836366 SCV002079373 uncertain significance Citrullinemia 2020-08-18 no assertion criteria provided clinical testing

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