ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)

gnomAD frequency: 0.00011  dbSNP: rs782799573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249948 SCV002519647 pathogenic Thrombophilia, X-linked, due to factor 8 defect 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004577012 SCV005061240 uncertain significance Hereditary factor VIII deficiency disease criteria provided, single submitter clinical testing The missense variant c.6951C>G(p.Asp2317Glu) in F8 gene has been reported in patients affected with mild hemophilia A and F8 gene related disorders (Nair et. al., 2016; Zheng et. al., 2015; Nair et. al., 2014). The observed variant has allele frequency of 0.01% in gnomAD exomes database. This variant has been submitted to the ClinVar database as pathogenic but no details available for independent assessment. The amino acid Asp at position 2317 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. Functional studies will be required to confirm the pathogenicity of the variant. For these reasons, this variant has been classified as Uncertain SIgnificance (VUS).

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