ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)

dbSNP: rs547488738
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180561 SCV000233027 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000180561 SCV000533600 likely benign not specified 2016-11-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000559346 SCV000631377 benign Glucose-6-phosphate transport defect 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408783 SCV002721958 uncertain significance Inborn genetic diseases 2022-10-09 criteria provided, single submitter clinical testing The p.S356T variant (also known as c.1067G>C), located in coding exon 7 of the SLC37A4 gene, results from a G to C substitution at nucleotide position 1067. The serine at codon 356 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000559346 SCV002078618 benign Glucose-6-phosphate transport defect 2019-12-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003937641 SCV004759424 benign SLC37A4-related disorder 2022-08-16 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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