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NM_000152.5(GAA):c.109C>G (p.Leu37Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 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:
RCV001556663.2

Allele description [Variation Report for NM_000152.5(GAA):c.109C>G (p.Leu37Val)]

NM_000152.5(GAA):c.109C>G (p.Leu37Val)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
HGVS:
  • NC_000017.11:g.80104695C>G
  • NG_009822.1:g.8140C>G
  • NM_000152.5:c.109C>GMANE SELECT
  • NM_001079803.3:c.109C>G
  • NM_001079804.3:c.109C>G
  • NP_000143.2:p.Leu37Val
  • NP_001073271.1:p.Leu37Val
  • NP_001073272.1:p.Leu37Val
  • LRG_673t1:c.109C>G
  • LRG_673:g.8140C>G
  • NC_000017.10:g.78078494C>G
  • NM_000152.3:c.109C>G
Protein change:
L37V
Links:
dbSNP: rs369775994
NCBI 1000 Genomes Browser:
rs369775994
Molecular consequence:
  • NM_000152.5:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001778283GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 12, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001778283.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Identified in the heterozygous state in a proband in published literature with myopathy, but no variant on the other GAA allele was identified and the patient had a potentially causative variant in another gene (Liewluck et al., 2019); This variant is associated with the following publications: (PMID: 30987788)

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

Last Updated: Sep 29, 2024