ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)

gnomAD frequency: 0.00273  dbSNP: rs202209699
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196846 SCV000252291 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing p.Thr323Ile (ACC>ATC): c.968 C>T in exon 8 of the SLC37A4 gene (NM_001164277.1) A variant of unknown significance has been identified in the SLC37A4 gene. The T323I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Mutations in the SLC37A4 gene are associated with the autosomal recessive disorders glycogen storage disease Ib and Ic. The T323I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids similar to Threonine are conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001084427 SCV001027625 benign Glucose-6-phosphate transport defect 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084427 SCV001652736 likely benign Glucose-6-phosphate transport defect 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000196846 SCV004129447 benign not provided 2022-08-01 criteria provided, single submitter clinical testing SLC37A4: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003937743 SCV004756069 benign SLC37A4-related disorder 2019-06-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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