NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Jun 30, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)]

NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)

GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
  • NC_000017.11:g.80117075A>G
  • NG_009822.1:g.20520A>G
  • NM_000152.5:c.2297A>GMANE SELECT
  • NM_001079803.3:c.2297A>G
  • NM_001079804.3:c.2297A>G
  • NP_000143.2:p.Tyr766Cys
  • NP_001073271.1:p.Tyr766Cys
  • NP_001073272.1:p.Tyr766Cys
  • LRG_673t1:c.2297A>G
  • LRG_673:g.20520A>G
  • NC_000017.10:g.78090874A>G
  • NM_000152.3:c.2297A>G
  • NM_000152.4(GAA):c.2297A>G
  • NM_000152.4:c.2297A>G
  • P10253:p.Tyr766Cys
Protein change:
UniProtKB: P10253#VAR_070019; dbSNP: rs144016984
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000152.5:c.2297A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.2297A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.2297A>G - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000338123EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 4, 2016)
germlineclinical testing

Citation Link,

SCV001796063GeneDxcriteria provided, single submitter
Likely pathogenic
(Jun 30, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000338123.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001796063.1

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


Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #285197; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33073003, 21605996, 22676651, 27535533, 29124014, 30564623)

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

Last Updated: Sep 24, 2021

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