ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1168C>T (p.His390Tyr) (rs199764888)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730228 SCV000252294 uncertain significance not provided 2013-12-30 criteria provided, single submitter clinical testing p.His390Tyr (CAC>TAC): c.1168 C>T in exon 10 of the SLC37A4 gene (NM_001164277.1) A variant of unknown significance has been identified in the SLC37A4 gene.The H390Y missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The H390Y variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. This change occurs at a position in the SLC37A4 protein that is not highly conserved. In-silico analyses are not consistent in their predictions of whether or not H390Y is damaging to the SLC37A4 protein. Therefore, based on the currently available information, it is unclear whether H390Y is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000698406 SCV000827067 uncertain significance Glucose-6-phosphate transport defect 2019-09-21 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 390 of the SLC37A4 protein (p.Leu2133Val). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs199764888, ExAC 0.1%). This variant has not been reported in the literature in individuals with SLC37A4-related disease. ClinVar contains an entry for this variant (Variation ID: 215182). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "benign"; Align-GVGD: "Class C0"). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730228 SCV000857949 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing

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