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NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe) AND Pseudo von Willebrand disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002260538.3

Allele description [Variation Report for NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe)]

NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe)

Gene:
GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe)
HGVS:
  • NC_000017.11:g.4933184C>T
  • NG_008767.2:g.5890C>T
  • NM_000173.7:c.580C>TMANE SELECT
  • NP_000164.5:p.Leu194Phe
  • LRG_480t1:c.580C>T
  • LRG_480:g.5890C>T
  • LRG_480p1:p.Leu194Phe
  • NC_000017.10:g.4836479C>T
Protein change:
L194F
Links:
dbSNP: rs368111193
NCBI 1000 Genomes Browser:
rs368111193
Molecular consequence:
  • NM_000173.7:c.580C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Uncertain function

Condition(s)

Name:
Pseudo von Willebrand disease (VWDP)
Synonyms:
BLEEDING DISORDER, PLATELET-TYPE, 3; Platelet-type von Willebrand disease
Identifiers:
MONDO: MONDO:0008332; MedGen: C1280798; Orphanet: 52530; OMIM: 177820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002540206Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto
no assertion criteria provided
Uncertain significance
(Jul 5, 2022) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto, SCV002540206.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

The patient has a phenotype concordant with PT-VWD: moderate bleeding - ISTH-BAT bleeding score 3 - and macrothrombocytopenia. Platelet glycoprotein levels, assessed by flow cytometry, were decreased for GPIbα (CD42b) and GPIX (CD42a). Ristocetin-induced platelet agglutination (RIPA) was increased at a low ristocetin concentration (0.5 mg/mL).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024