Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • Despite there being a valid 'cspec' property in the messages there's a discrepancy in message contents and CSPEC data: * Message Gene: VWF CSPEC Genes: [ 'VWF' ] * Message MONDOs: MONDO:0019565 CSPEC MONDO: [ 'MONDO:0015628', 'MONDO:0015629', 'MONDO:0015630', 'MONDO:0013304', 'MONDO:0024574' ]
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000552.5(VWF):c.1077C>T (p.Pro359=)

CA6403568

310086 (ClinVar)

Gene: VWF (HGNC:7450)
Condition: hereditary von Willebrand disease (MONDO:0019565)
Inheritance Mode: Undetermined mode of inheritance
UUID: ebf8f52f-ecdc-469b-9a2d-d41227f0945a
Approved on: 2025-12-02
Published on: 2025-12-02

HGVS expressions

NM_000552.5:c.1077C>T
NM_000552.5(VWF):c.1077C>T (p.Pro359=)
NC_000012.12:g.6072363G>A
CM000674.2:g.6072363G>A
NC_000012.11:g.6181529G>A
CM000674.1:g.6181529G>A
NC_000012.10:g.6051790G>A
NG_009072.1:g.57308C>T
NG_009072.2:g.57308C>T
ENST00000261405.10:c.1077C>T
ENST00000261405.9:c.1077C>T
ENST00000538635.5:n.420+38152C>T
NM_000552.3:c.1077C>T
NM_000552.4:c.1077C>T
More

Likely Benign

Met criteria codes 2
BP7 BP4
Not Met criteria codes 1
BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
von Willebrand Disease VCEP
The NM_000552.5:c.1077C>T (p.Pro359=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP4 & BP7). Three submitters have reported this variant to ClinVar but no phenotype details are available. There are no reports of affected cases in the literature and the variant is absent from LOVD. In summary, this variant meets the criteria to be classified as likely benign for hereditary von Willebrand disease based on the ACMG/AMP criteria applied, as specified by the ClinGen VWD VCEP: BP4, BP7. (VCEP specifications version 1)
Met criteria codes
BP7
The NM_000552.5:c.1077C>T (p.Pro359=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP7).
BP4
The NM_000552.5:c.1077C>T (p.Pro359=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing (BP4).
Not Met criteria codes
BS1
The Grpmax filtering allele frequency in gnomAD v4.1 is 0.003637 (based on 362/91706 alleles in the south Asian population, this also includes 5 homozygotes). This intermediate allele frequency is lower than the ClinGen VWD VCEP threshold (>0.01) for BS1 but higher than the threshold (<0.0001) for type 2 for PM2_Supporting.
Curation History
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