ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466947 SCV002761930 uncertain significance Hereditary factor VIII deficiency disease 2022-04-28 criteria provided, single submitter clinical testing The VWF c.2308C>T variant is classified as VUS (PP3) The VWF c.2308C>T variant is a single nucleotide change in exon 18/52 of the VWF gene, which is predicted to change the amino acid proline at position 770 in the protein to serine. This variant is present at low frequency in population databases (gnomAD allele frequency = 0.0045%; 7 het and 0 hom in 152204 sequenced alleles; highest frequency = 0.096%, East Asian population) (PM2 not met). Computational predictions support a deleterious effect on the gene or gene product (PP3). The variant has been reported in dbSNP (rs149051646). It has not been reported in ClinVar or HGMD.

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