Submissions for variant NM_000552.5(VWF):c.6908C>T (p.Thr2303Met)

gnomAD frequency: 0.00009  dbSNP: rs149432685

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000373951	SCV000380568	uncertain significance	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235186	SCV003934651	uncertain significance	not specified	2023-05-12	criteria provided, single submitter	clinical testing	Variant summary: VWF c.6908C>T (p.Thr2303Met) results in a non-conservative amino acid change located in the VWFC domain (IPR001007) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00028 in 251458 control chromosomes. To our knowledge, no occurrence of c.6908C>T in individuals affected with Von Willebrand Disease and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.