NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000493598.1

Allele description [Variation Report for NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)]

NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)

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.1027C>T (p.Arg343Trp)
HGVS:
  • NC_000001.11:g.99874755C>T
  • NG_012865.1:g.29672C>T
  • NM_000028.2:c.1027C>T
  • NM_000642.3:c.1027C>TMANE SELECT
  • NM_000643.2:c.1027C>T
  • NM_000644.2:c.1027C>T
  • NM_000646.2:c.979C>T
  • NP_000019.2:p.Arg343Trp
  • NP_000633.2:p.Arg343Trp
  • NP_000634.2:p.Arg343Trp
  • NP_000635.2:p.Arg343Trp
  • NP_000637.2:p.Arg327Trp
  • NC_000001.10:g.100340311C>T
  • NM_000642.2:c.1027C>T
Protein change:
R327W
Links:
dbSNP: rs1131691438
NCBI 1000 Genomes Browser:
rs1131691438
Molecular consequence:
  • NM_000028.2:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000642.3:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000643.2:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000644.2:c.1027C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000646.2:c.979C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000582123GeneDxcriteria provided, single submitter
Likely pathogenic
(May 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000582123.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R343W variant was identified in a patient with glycogen storage disease type III who harbored a pathogenic variant on the other AGL allele (in trans) (Sentner et al. 2013). The R343W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R343W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic.

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

Last Updated: Nov 27, 2021

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