ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.5785A>T (p.Asn1929Tyr)

gnomAD frequency: 0.00004  dbSNP: rs149799233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299801 SCV000380584 uncertain significance Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739677 SCV005350164 uncertain significance VWF-related disorder 2024-06-28 no assertion criteria provided clinical testing The VWF c.5785A>T variant is predicted to result in the amino acid substitution p.Asn1929Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.25% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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