NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 26, 2020
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:: RCV002328756.3

Allele description [Variation Report for NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)]

NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)

HGVS:

NC_000023.11:g.101397918A>G
NG_007119.1:g.15046T>C
NM_000169.3:c.1181T>CMANE SELECT
NM_001199973.2:c.300+2461A>G
NM_001199974.2:c.177+6096A>G
NP_000160.1:p.Leu394Pro
NP_000160.1:p.Leu394Pro
LRG_672t1:c.1181T>C
LRG_672:g.15046T>C
LRG_672p1:p.Leu394Pro
NC_000023.10:g.100652906A>G
NM_000169.2:c.1181T>C
NR_164783.1:n.1260T>C

Protein change:

L394P

Links:

dbSNP: rs886044779

NCBI 1000 Genomes Browser:

rs886044779

Molecular consequence:

NM_001199973.2:c.300+2461A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.177+6096A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.1260T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002634485	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 26, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002634485

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 26, 2020)

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, SCV002634485.2

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

Description

The p.L394P variant (also known as c.1181T>C), located in coding exon 7 of the GLA gene, results from a T to C substitution at nucleotide position 1181. The leucine at codon 394 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 12, 2024

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