ClinVar Miner

Submissions for variant NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln)

gnomAD frequency: 0.00011  dbSNP: rs188700676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329924 SCV001521486 uncertain significance Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 2020-03-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002516002 SCV003258179 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC13A3 protein function. ClinVar contains an entry for this variant (Variation ID: 161765). This variant has not been reported in the literature in individuals affected with SLC13A3-related conditions. This variant is present in population databases (rs188700676, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 546 of the SLC13A3 protein (p.Arg546Gln).
Science for Life laboratory, Karolinska Institutet RCV000149301 SCV000088943 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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