ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser)

gnomAD frequency: 0.00002  dbSNP: rs777285678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318250 SCV000851541 uncertain significance Inborn genetic diseases 2017-02-10 criteria provided, single submitter clinical testing The p.P474S variant (also known as c.1420C>T), located in coding exon 10 of the SLC13A5 gene, results from a C to T substitution at nucleotide position 1420. The proline at codon 474 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001046009 SCV001209890 uncertain significance Developmental and epileptic encephalopathy, 25 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 474 of the SLC13A5 protein (p.Pro474Ser). This variant is present in population databases (rs777285678, gnomAD 0.02%). 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: 590068). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Genome-Nilou Lab RCV001046009 SCV002055654 uncertain significance Developmental and epileptic encephalopathy, 25 2021-07-15 criteria provided, single submitter clinical testing

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