Submissions for variant NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003230955	SCV003929192	uncertain significance	not specified	2023-04-25	criteria provided, single submitter	clinical testing	Variant summary: SLC37A4 c.343G>A (p.Gly115Arg) results in a non-conservative amino acid change located in the Major facilitator superfamily domain (IPR020846) of the encoded protein sequence. Two of two in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 234176 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.343G>A has been reported in the literature in at least one compound heterozygous individual affected with Glycogen Storage Disease Type Ib (e.g. Liang_2020). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32772503). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Baylor Genetics	RCV003475550	SCV004202466	pathogenic	Glucose-6-phosphate transport defect	2024-03-21	criteria provided, single submitter	clinical testing