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NM_000152.5(GAA):c.569G>A (p.Arg190His) AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 14, 2023
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:
RCV004020013.1

Allele description [Variation Report for NM_000152.5(GAA):c.569G>A (p.Arg190His)]

NM_000152.5(GAA):c.569G>A (p.Arg190His)

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.569G>A (p.Arg190His)
HGVS:
  • NC_000017.11:g.80105771G>A
  • NG_009822.1:g.9216G>A
  • NM_000152.5:c.569G>AMANE SELECT
  • NM_001079803.3:c.569G>A
  • NM_001079804.3:c.569G>A
  • NP_000143.2:p.Arg190His
  • NP_001073271.1:p.Arg190His
  • NP_001073272.1:p.Arg190His
  • LRG_673t1:c.569G>A
  • LRG_673:g.9216G>A
  • NC_000017.10:g.78079570G>A
  • NM_000152.3:c.569G>A
  • NM_000152.4(GAA):c.569G>A
  • P10253:p.Arg190His
Protein change:
R190H
Links:
UniProtKB: P10253#VAR_068570; dbSNP: rs528367092
NCBI 1000 Genomes Browser:
rs528367092
Molecular consequence:
  • NM_000152.5:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005032509Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Dec 14, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium..

Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745.

PubMed [citation]
PMID:
18425781

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS.

Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933.

PubMed [citation]
PMID:
21484825
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV005032509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.R190H variant (also known as c.569G>A), located in coding exon 2 of the GAA gene, results from a G to A substitution at nucleotide position 569. The arginine at codon 190 is replaced by histidine, an amino acid with highly similar properties. This variant has been reported in individuals with Pompe disease who were compound heterozygous with additional alterations in GAA (Kroos M et al. Hum Mutat, 2008 Jun;29:E13-26; Bali DS et al. Muscle Nerve, 2011 May;43:665-70; Er TK et al. Clin Chim Acta, 2014 Feb;429:18-25; Johnson K et al. Orphanet J Rare Dis, 2017 Nov;12:173; Fukuhara Y et al. Mol Genet Metab Rep, 2018 Mar;14:3-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Oct 8, 2024