Submissions for variant NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)

dbSNP: rs398123171

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174830	SCV000226205	pathogenic	not provided	2012-10-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001383432	SCV001582579	pathogenic	Glycogen storage disease, type II	2023-06-29	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 92471). This variant is also known as c.2071_2072insAGCCG. This premature translational stop signal has been observed in individuals with Pompe disease (PMID: 16838077, 29149851). This sequence change creates a premature translational stop signal (p.Ala691Serfs*7) 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).
Revvity Omics, Revvity	RCV000174830	SCV002021184	pathogenic	not provided	2020-02-13	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001383432	SCV005051779	pathogenic	Glycogen storage disease, type II	2024-02-01	criteria provided, single submitter	curation