Submissions for variant NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)

dbSNP: rs1221156663

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV001261625	SCV001438912	pathogenic	Glycogen storage disease, type II		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001261625	SCV004296877	pathogenic	Glycogen storage disease, type II	2023-07-09	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 982109). This premature translational stop signal has been observed in individual(s) with GAA-related conditions (PMID: 27629047, 34530085). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln553*) in the GAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001261625	SCV004804967	pathogenic	Glycogen storage disease, type II	2024-03-17	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001283827	SCV001469243	pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	2020-10-11	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702092	SCV001929619	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702092	SCV001970367	pathogenic	not provided		no assertion criteria provided	clinical testing