ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) (rs186476316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000199219 SCV000700710 uncertain significance not provided 2014-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000199219 SCV000252289 likely pathogenic not provided 2015-07-28 criteria provided, single submitter clinical testing p.Arg166His (CGC>CAC): c.497 G>A in exon 5 of the SLC37A4 gene (NM_001164277.1) The R166H variant in the SLC37A4 gene is likely pathogenic. It 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 R166H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is highly conserved across species. A non-conservative missense change at the same position (R166L) has been reported previously in association with glycogen storage disease Ib (Chen et al., 2008). In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (A156V, C176R) have also been reported in association with glycogen storage disease Ib, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in LAPDH-MITOP,MITONUC-MITOP panel(s).
Invitae RCV000634553 SCV000755873 benign Glucose-6-phosphate transport defect 2017-11-07 criteria provided, single submitter clinical testing

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