ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)

gnomAD frequency: 0.00007  dbSNP: rs11552539
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027801 SCV001190414 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect 2019-09-04 criteria provided, single submitter clinical testing SLC37A4 NM_001164277.1 exon5 p.Arg166Cys (c.496C>T): This variant has not been reported in the literature but is present in 0.02% (7/23934) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/11-118898468-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002505552 SCV002814234 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002552012 SCV003469298 uncertain significance Glucose-6-phosphate transport defect 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 166 of the SLC37A4 protein (p.Arg166Cys). This variant is present in population databases (rs11552539, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 827988). 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 expected to disrupt SLC37A4 protein function with a positive predictive value of 80%. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002505552 SCV003920485 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2021-12-22 criteria provided, single submitter clinical testing SLC37A4 NM_001164277.1 exon5 p.Arg166Cys (c.496C>T): This variant has not been reported in the literature but is present in 0.02% (7/23934) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/11-118898468-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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