Submissions for variant NM_000152.5(GAA):c.2323C>A (p.Leu775Met)

gnomAD frequency: 0.00021  dbSNP: rs147290429

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000331593	SCV000331863	uncertain significance	not provided	2015-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529044	SCV000626562	likely benign	Glycogen storage disease, type II	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000331593	SCV001796499	uncertain significance	not provided	2021-04-19	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 281240; Landrum et al., 2016)
Genome-Nilou Lab	RCV000529044	SCV001810189	uncertain significance	Glycogen storage disease, type II	2021-07-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450800	SCV002736444	uncertain significance	Cardiovascular phenotype	2024-09-19	criteria provided, single submitter	clinical testing	The p.L775M variant (also known as c.2323C>A), located in coding exon 15 of the GAA gene, results from a C to A substitution at nucleotide position 2323. The leucine at codon 775 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Revvity Omics, Revvity	RCV000331593	SCV003828450	uncertain significance	not provided	2021-02-23	criteria provided, single submitter	clinical testing