NM_000642.3(AGL):c.4404G>C (p.Leu1468Phe) AND Glycogen storage disease type III

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 5, 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:: RCV001878851.4

Allele description [Variation Report for NM_000642.3(AGL):c.4404G>C (p.Leu1468Phe)]

NM_000642.3(AGL):c.4404G>C (p.Leu1468Phe)

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.4404G>C (p.Leu1468Phe)

HGVS:

NC_000001.11:g.99916654G>C
NG_012865.1:g.71571G>C
NM_000028.3:c.4404G>C
NM_000642.3:c.4404G>CMANE SELECT
NM_000643.3:c.4404G>C
NM_000644.3:c.4404G>C
NM_000646.3:c.4356G>C
NM_001425325.1:c.4404G>C
NM_001425326.1:c.4383G>C
NM_001425327.1:c.4203G>C
NM_001425328.1:c.4200G>C
NM_001425329.1:c.4065G>C
NM_001425332.1:c.4026G>C
NP_000019.2:p.Leu1468Phe
NP_000019.2:p.Leu1468Phe
NP_000633.2:p.Leu1468Phe
NP_000634.2:p.Leu1468Phe
NP_000634.2:p.Leu1468Phe
NP_000635.2:p.Leu1468Phe
NP_000635.2:p.Leu1468Phe
NP_000637.2:p.Leu1452Phe
NP_000637.2:p.Leu1452Phe
NP_001412254.1:p.Leu1468Phe
NP_001412255.1:p.Leu1461Phe
NP_001412256.1:p.Leu1401Phe
NP_001412257.1:p.Leu1400Phe
NP_001412258.1:p.Leu1355Phe
NP_001412261.1:p.Leu1342Phe
NC_000001.10:g.100382210G>C
NM_000028.2:c.4404G>C
NM_000643.2:c.4404G>C
NM_000644.2:c.4404G>C
NM_000646.2:c.4356G>C

Protein change:

L1342F

Links:

dbSNP: rs2100876196

NCBI 1000 Genomes Browser:

rs2100876196

Molecular consequence:

NM_000028.3:c.4404G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_000642.3:c.4404G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_000643.3:c.4404G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_000644.3:c.4404G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_000646.3:c.4356G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425325.1:c.4404G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425326.1:c.4383G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425327.1:c.4203G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425328.1:c.4200G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425329.1:c.4065G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001425332.1:c.4026G>C - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002131754	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 5, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002131754

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 5, 2021)

germline

clinical testing

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

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, SCV002131754.3

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

Description

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. 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 tolerated. This variant has not been reported in the literature in individuals affected with AGL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1468 of the AGL protein (p.Leu1468Phe).

#	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

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