NM_000169.3(GLA):c.427G>C (p.Ala143Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 23, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000157890.3

Allele description [Variation Report for NM_000169.3(GLA):c.427G>C (p.Ala143Pro)]

NM_000169.3(GLA):c.427G>C (p.Ala143Pro)

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.427G>C (p.Ala143Pro)
Other names:
p.A143P:GCA>CCA
HGVS:
  • NC_000023.11:g.101401752C>G
  • NG_007119.1:g.11212G>C
  • NM_000169.2:c.427G>C
  • NM_000169.3:c.427G>CMANE SELECT
  • NM_001199973.2:c.300+6295C>G
  • NM_001199974.2:c.177+9930C>G
  • NP_000160.1:p.Ala143Pro
  • NP_000160.1:p.Ala143Pro
  • LRG_672t1:c.427G>C
  • LRG_672:g.11212G>C
  • LRG_672p1:p.Ala143Pro
  • NC_000023.10:g.100656740C>G
  • NR_164783.1:n.449G>C
  • P06280:p.Ala143Pro
Protein change:
A143P; ALA143PRO
Links:
UniProtKB: P06280#VAR_000453; OMIM: 300644.0057; dbSNP: rs104894845
NCBI 1000 Genomes Browser:
rs104894845
Molecular consequence:
  • NM_001199973.2:c.300+6295C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+9930C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.2:c.427G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000169.3:c.427G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.449G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110120EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 13, 2013)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000207821GeneDxcriteria provided, single submitter
Pathogenic
(Apr 23, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, Goldfarb L, Brady RO, Balow JE, Austin Iii HA, Kopp JB.

Medicine (Baltimore). 2002 Mar;81(2):122-38. No abstract available.

PubMed [citation]
PMID:
11889412

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 (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110120.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV000207821.12

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

Description

The A143P pathogenic variant has been reported previously in a patient with the classic phenotype of Fabry disease (Eng et al., 1994).

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

Last Updated: Nov 20, 2021

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