ClinVar Miner

Submissions for variant NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)

gnomAD frequency: 0.00006  dbSNP: rs138085358
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500491 SCV000597072 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727383 SCV000708035 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000234998 SCV001441068 uncertain significance Episodic ataxia type 6 2019-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727383 SCV001961875 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLC1A3: BS1
Genome-Nilou Lab RCV000234998 SCV002027598 uncertain significance Episodic ataxia type 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727383 SCV002128034 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 499 of the SLC1A3 protein (p.Arg499Gln). This variant is present in population databases (rs138085358, gnomAD 0.01%). This missense change has been observed in individual(s) with ataxia (PMID: 25497598). This variant is also known as Arg454Gln. ClinVar contains an entry for this variant (Variation ID: 242994). 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 SLC1A3 protein function. Studies have shown that this missense change alters SLC1A3 gene expression (PMID: 32741053). 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.
OMIM RCV000234998 SCV000292325 pathogenic Episodic ataxia type 6 2018-04-02 no assertion criteria provided literature only

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