ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val)

gnomAD frequency: 0.00013  dbSNP: rs150517372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690168 SCV000817847 uncertain significance Developmental and epileptic encephalopathy, 25 2022-10-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 251 of the SLC13A5 protein (p.Ala251Val). This variant is present in population databases (rs150517372, 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: 569521). 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 SLC13A5 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.
GeneDx RCV001785702 SCV002027726 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000690168 SCV002055668 uncertain significance Developmental and epileptic encephalopathy, 25 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163143 SCV003871204 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.752C>T (p.A251V) alteration is located in exon 6 (coding exon 6) of the SLC13A5 gene. This alteration results from a C to T substitution at nucleotide position 752, causing the alanine (A) at amino acid position 251 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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