Submissions for variant NM_000152.5(GAA):c.-32-13T>C

dbSNP: rs386834236

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001325856	SCV001516865	uncertain significance	Glycogen storage disease, type II	2021-09-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001844284	SCV002103373	uncertain significance	not specified	2022-02-11	criteria provided, single submitter	clinical testing	Variant summary: GAA c.-32-13T>C is located in the untranslated mRNA region upstream of the initiation codon. Several computational tools predict a significant impact on normal splicing: Three predict the variant weakens a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 220344 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.-32-13T>C has been reported in the literature in one individual affected with Glycogen Storage Disease, Type 2 (Pompe Disease; Ficicioglu_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. A different variant located at the same nucleotide position have been reported in association with Glycogen storage disease 2 in HGMD (c.-32-13T>A, c.-32-13T>G). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.