ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4693G>T (p.Val1565Leu)

gnomAD frequency: 0.08527  dbSNP: rs1800385
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen RCV000382042 SCV005442522 benign Hereditary von Willebrand disease 2024-08-13 reviewed by expert panel curation The NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) missense variant has a Grpmax filtering allele frequency in gnomAD v4.1 is 0.3882 (based on 17604/44790 alleles in the east Asian population, including 3463 homozygotes), which is higher than the ClinGen VWD VCEP threshold of >0.1 for BA1. The computational predictor REVEL gives a score of 0.183, which is below the ClinGen VWD VCEP threshold of <0.290 and does not predict a damaging effect on VWF function (BP4). Additionally, the computational splicing predictor SpliceAI indicated that the variant has no impact on splicing. In summary, this variant meets the criteria to be classified as benign for von Willebrand disease based on the ACMG/AMP criteria applied, as specified by the ClinGen VWD VCEP: BA1, BP4.
PreventionGenetics, part of Exact Sciences RCV000244522 SCV000305316 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382042 SCV000380594 likely benign Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812685 SCV000605566 benign not provided 2021-02-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244025 SCV002514579 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244026 SCV002514580 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244027 SCV002514581 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001812685 SCV004221545 benign not provided 2023-02-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812685 SCV005213646 likely benign not provided criteria provided, single submitter not provided

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