Submissions for variant NM_053013.4(ENO3):c.240G>A (p.Lys80=)

dbSNP: rs980318534

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001036340	SCV001199699	uncertain significance	Glycogen storage disease due to muscle beta-enolase deficiency	2019-03-25	criteria provided, single submitter	clinical testing	This sequence change affects codon 80 of the ENO3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ENO3 protein. This variant also falls at the last nucleotide of exon 4 of the ENO3 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ENO3-related conditions.