NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) AND von Willebrand disease type 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Mar 29, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV001027679.3

Allele description

NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)

Gene:

VWF:von Willebrand factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)

HGVS:

NC_000012.12:g.6018838C>T
NG_009072.2:g.110833G>A
NM_000552.5:c.4580G>AMANE SELECT
NM_000552.5:c.4580G>A
NP_000543.3:p.Arg1527Gln
LRG_587t1:c.4580G>A
LRG_587:g.110833G>A
LRG_587p1:p.Arg1527Gln
NC_000012.11:g.6128004C>T
NG_009072.1:g.110833G>A
NM_000552.3:c.4580G>A

Protein change:

R1527Q

Links:

dbSNP: rs780538558

NCBI 1000 Genomes Browser:

rs780538558

Molecular consequence:

NM_000552.5:c.4580G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: von Willebrand disease type 1 (VWD1)
Synonyms:: VON WILLEBRAND DISEASE, TYPE I; VWD, TYPE 1
Identifiers:: MONDO: MONDO:0008668; MedGen: C1264039; Orphanet: 166078; Orphanet: 903; OMIM: 193400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190243	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 7, 2019)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004808150	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190243

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 7, 2019)

paternal

clinical testing

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

SCV004808150

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 29, 2024)

germline

clinical testing

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

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
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Facile, rapid, and large-area periodic patterning of semiconductor substrates with submicron inorganic structures.

Kempa TJ, Bediako DK, Jones EC, Lieber CM, Nocera DG.

J Am Chem Soc. 2015 Mar 25;137(11):3739-42. doi: 10.1021/ja5118717. Epub 2015 Mar 12.

PubMed [citation]

PMID:: 25741869

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190243.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004808150.1

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

#	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: Apr 6, 2024

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