Submissions for variant NM_000642.3(AGL):c.1810T>G (p.Phe604Val)

gnomAD frequency: 0.00125  dbSNP: rs138105395

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000556733	SCV000626679	likely benign	Glycogen storage disease type III	2024-01-24	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001509048	SCV001715550	uncertain significance	not provided	2020-03-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001509048	SCV002048530	uncertain significance	not provided	2021-07-21	criteria provided, single submitter	clinical testing	The AGL c.1810T>G; p.Phe604Val variant (rs138105395), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 456459). This variant is found in the African population with an overall allele frequency of 0.41% (103/24974 alleles, including one homozygote) in the Genome Aggregation Database. The phenylalanine at codon 604 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.825). However, due to limited information, the clinical significance of the p.Phe604Val variant is uncertain at this time.
Genome-Nilou Lab	RCV000556733	SCV002055532	likely benign	Glycogen storage disease type III	2021-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001509048	SCV002526466	uncertain significance	not provided	2023-08-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002527670	SCV003724994	likely benign	Inborn genetic diseases	2021-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003935403	SCV004755127	likely benign	AGL-related condition	2020-08-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).