ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)

gnomAD frequency: 0.00002  dbSNP: rs1202091819
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989689 SCV001140225 uncertain significance Developmental and epileptic encephalopathy, 25 2022-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989689 SCV001405756 uncertain significance Developmental and epileptic encephalopathy, 25 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 145 of the SLC13A5 protein (p.Thr145Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC13A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 803301). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
GeneDx RCV001557426 SCV001779184 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000989689 SCV002055646 uncertain significance Developmental and epileptic encephalopathy, 25 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000989689 SCV004041087 uncertain significance Developmental and epileptic encephalopathy, 25 2023-01-05 criteria provided, single submitter clinical testing

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