ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)

gnomAD frequency: 0.00001  dbSNP: rs577901657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732446 SCV000860406 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578817 SCV001806146 uncertain significance Citrullinemia, type II, adult-onset 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578818 SCV001806147 uncertain significance Neonatal intrahepatic cholestasis due to citrin deficiency 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536480 SCV003245744 uncertain significance Citrin deficiency 2021-11-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 62 of the SLC25A13 protein (p.Ser62Asn). This variant is present in population databases (rs577901657, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC25A13-related conditions. ClinVar contains an entry for this variant (Variation ID: 596568). 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.

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