NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu) AND Glycogen storage disease type III

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 2, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001307610.8

Allele description [Variation Report for NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)]

NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)

Gene:

AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)

HGVS:

NC_000001.11:g.99910794T>G
NG_012865.1:g.65711T>G
NM_000028.3:c.3783T>G
NM_000642.3:c.3783T>GMANE SELECT
NM_000643.3:c.3783T>G
NM_000644.3:c.3783T>G
NM_000646.3:c.3735T>G
NM_001425325.1:c.3783T>G
NM_001425326.1:c.3762T>G
NM_001425327.1:c.3582T>G
NM_001425328.1:c.3579T>G
NM_001425329.1:c.3444T>G
NM_001425332.1:c.3405T>G
NP_000019.2:p.Asp1261Glu
NP_000019.2:p.Asp1261Glu
NP_000633.2:p.Asp1261Glu
NP_000634.2:p.Asp1261Glu
NP_000634.2:p.Asp1261Glu
NP_000635.2:p.Asp1261Glu
NP_000635.2:p.Asp1261Glu
NP_000637.2:p.Asp1245Glu
NP_000637.2:p.Asp1245Glu
NP_001412254.1:p.Asp1261Glu
NP_001412255.1:p.Asp1254Glu
NP_001412256.1:p.Asp1194Glu
NP_001412257.1:p.Asp1193Glu
NP_001412258.1:p.Asp1148Glu
NP_001412261.1:p.Asp1135Glu
NC_000001.10:g.100376350T>G
NM_000028.2:c.3783T>G
NM_000643.2:c.3783T>G
NM_000644.2:c.3783T>G
NM_000646.2:c.3735T>G

Protein change:

D1135E

Links:

dbSNP: rs771249925

NCBI 1000 Genomes Browser:

rs771249925

Molecular consequence:

NM_000028.3:c.3783T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000642.3:c.3783T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000643.3:c.3783T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000644.3:c.3783T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000646.3:c.3735T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425325.1:c.3783T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425326.1:c.3762T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425327.1:c.3582T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425328.1:c.3579T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425329.1:c.3444T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425332.1:c.3405T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glycogen storage disease type III (GSD3)
Synonyms:: Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001497029	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 2, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002094558	Natera, Inc.	no assertion criteria provided	Uncertain significance (Mar 17, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001497029

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 2, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002094558

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Mar 17, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001497029.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces aspartic acid with glutamic acid at codon 1261 of the AGL protein (p.Asp1261Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs771249925, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002094558.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine