Submissions for variant NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)

gnomAD frequency: 0.00774  dbSNP: rs78302129

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen	RCV004821289	SCV005442525	likely benign	Hereditary von Willebrand disease	2024-08-13	reviewed by expert panel	curation	NM_000552.5(VWF):c.5173C>T is a missense variant that replaces proline with serine at position 1725. T The Grpmax filtering allele frequency in gnomAD v4.1 is 0.02354 (based on 1836/75022 alleles in the African / African-American population, with 27 homozygotes), which is higher than the ClinGen VWD VCEP threshold of >0.01 for BS1. While this variant has been reported in healthy control individuals (PMID: 22197721), BS2 is not being used due to penetrance issues. 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: BS1.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000760125	SCV000889916	benign	not provided	2022-07-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000760125	SCV004226289	uncertain significance	not provided	2022-11-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000760125	SCV004562395	benign	not provided	2024-10-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000760125	SCV005236783	benign	not provided		criteria provided, single submitter	not provided