NM_000169.3(GLA):c.1088G>A (p.Arg363His) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000724675.3

Allele description [Variation Report for NM_000169.3(GLA):c.1088G>A (p.Arg363His)]

NM_000169.3(GLA):c.1088G>A (p.Arg363His)

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.1088G>A (p.Arg363His)
HGVS:
  • NC_000023.11:g.101398011C>T
  • NG_007119.1:g.14953G>A
  • NM_000169.2:c.1088G>A
  • NM_000169.3:c.1088G>AMANE SELECT
  • NM_001199973.2:c.300+2554C>T
  • NM_001199974.2:c.177+6189C>T
  • NP_000160.1:p.Arg363His
  • NP_000160.1:p.Arg363His
  • LRG_672t1:c.1088G>A
  • LRG_672:g.14953G>A
  • LRG_672p1:p.Arg363His
  • NC_000023.10:g.100652999C>T
  • NM_000169.2(GLA):c.1088G>A
  • NR_164783.1:n.1167G>A
  • P06280:p.Arg363His
  • p.R363H
Protein change:
R363H
Links:
UniProtKB: P06280#VAR_012435; dbSNP: rs111422676
NCBI 1000 Genomes Browser:
rs111422676
Molecular consequence:
  • NM_001199973.2:c.300+2554C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+6189C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.2:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000169.3:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.1167G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]
Observations:
9

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000331853EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(May 1, 2018)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000920679Gharavi Laboratory,Columbia Universityno assertion criteria provided
Uncertain significance
(Sep 16, 2018)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV002024303PerkinElmer Genomicsno assertion criteria providedPathogenic
(Aug 14, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedresearch
not providedgermlineunknown9not providednot providednot providednot providedclinical testing

Citations

PubMed

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

Shabbeer J, Yasuda M, Luca E, Desnick RJ.

Mol Genet Metab. 2002 May;76(1):23-30.

PubMed [citation]
PMID:
12175777

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.

Hum Mutat. 2011 Aug;32(8):965-77. doi: 10.1002/humu.21530. Epub 2011 Jul 12.

PubMed [citation]
PMID:
21598360
PMCID:
PMC3170878
See all PubMed Citations (5)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331853.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided9not providednot providednot provided

From Gharavi Laboratory,Columbia University, SCV000920679.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From PerkinElmer Genomics, SCV002024303.1

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

Last Updated: Nov 28, 2021

Support Center