NM_000152.5(GAA):c.2602C>G (p.Leu868Val) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 11, 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:: RCV002437140.2

Allele description [Variation Report for NM_000152.5(GAA):c.2602C>G (p.Leu868Val)]

NM_000152.5(GAA):c.2602C>G (p.Leu868Val)

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.2602C>G (p.Leu868Val)

HGVS:

NC_000017.11:g.80118313C>G
NG_009822.1:g.21758C>G
NM_000152.5:c.2602C>GMANE SELECT
NM_001079803.3:c.2602C>G
NM_001079804.3:c.2602C>G
NM_001406741.1:c.2602C>G
NM_001406742.1:c.2602C>G
NP_000143.2:p.Leu868Val
NP_000143.2:p.Leu868Val
NP_001073271.1:p.Leu868Val
NP_001073272.1:p.Leu868Val
NP_001393670.1:p.Leu868Val
NP_001393671.1:p.Leu868Val
LRG_673t1:c.2602C>G
LRG_673:g.21758C>G
LRG_673p1:p.Leu868Val
NC_000017.10:g.78092112C>G
NM_000152.3:c.2602C>G

Protein change:

L868V

Molecular consequence:

NM_000152.5:c.2602C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079803.3:c.2602C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079804.3:c.2602C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406741.1:c.2602C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406742.1:c.2602C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002745497	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 11, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002745497

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 11, 2021)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002745497.2

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

Description

The p.L868V variant (also known as c.2602C>G), located in coding exon 17 of the GAA gene, results from a C to G substitution at nucleotide position 2602. The leucine at codon 868 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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