ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.809A>G (p.Asp270Gly)

gnomAD frequency: 0.00001  dbSNP: rs751343245
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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 RCV001374340 SCV001571161 uncertain significance Citrin deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 270 of the SLC25A13 protein (p.Asp270Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs751343245, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with SLC25A13-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001831332 SCV002079387 uncertain significance Citrullinemia 2020-02-13 no assertion criteria provided clinical testing

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