ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)

gnomAD frequency: 0.00001  dbSNP: rs137852374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700214 SCV005201768 likely pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing Published functional studies demonstrate reduced F8 abundance and activity, as well as significantly reduced VWF binding (van den Biggelaar et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.P2300S; This variant is associated with the following publications: (PMID: 19473423, 1908817, 9829908, 21909383, 36998198, 15471879)
OMIM RCV000010860 SCV000031087 pathogenic Hereditary factor VIII deficiency disease 1991-08-01 no assertion criteria provided literature only

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