ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.991A>G (p.Ile331Val) (rs201967384)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199412 SCV000252292 uncertain significance not provided 2017-08-10 criteria provided, single submitter clinical testing p.Ile331Val (ATC>GTC): c.991 A>G in exon 9 of the SLC37A4 gene (NM_001164277.1) The I331V 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 I331V 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 where amino acids with similar properties as Isoleucine are conserved. In silico analysis predicts this variant likely does not alter 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).
Invitae RCV001082259 SCV001053046 benign Glucose-6-phosphate transport defect 2019-12-31 criteria provided, single submitter clinical testing

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