NM_000642.3(AGL):c.662C>T (p.Thr221Ile) AND Glycogen storage disease type III

Clinical significance:Uncertain significance (Last evaluated: Oct 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001340768.1

Allele description [Variation Report for NM_000642.3(AGL):c.662C>T (p.Thr221Ile)]

NM_000642.3(AGL):c.662C>T (p.Thr221Ile)

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.662C>T (p.Thr221Ile)
HGVS:
  • NC_000001.11:g.99864587C>T
  • NG_012865.1:g.19504C>T
  • NM_000028.2:c.662C>T
  • NM_000642.3:c.662C>TMANE SELECT
  • NM_000643.2:c.662C>T
  • NM_000644.2:c.662C>T
  • NM_000646.2:c.614C>T
  • NP_000019.2:p.Thr221Ile
  • NP_000633.2:p.Thr221Ile
  • NP_000634.2:p.Thr221Ile
  • NP_000635.2:p.Thr221Ile
  • NP_000637.2:p.Thr205Ile
  • NC_000001.10:g.100330143C>T
Protein change:
T205I
Links:
dbSNP: rs1415593167
NCBI 1000 Genomes Browser:
rs1415593167
Molecular consequence:
  • NM_000028.2:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000642.3:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000643.2:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000644.2:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000646.2:c.614C>T - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001534596Invitaecriteria provided, single submitter
Uncertain significance
(Oct 23, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001534596.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces threonine with isoleucine at codon 221 of the AGL protein (p.Thr221Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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