ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1748A>G (p.Asn583Ser)

gnomAD frequency: 0.00002  dbSNP: rs782657516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578443 SCV000680222 likely pathogenic Hereditary factor VIII deficiency disease 2017-12-18 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000578443 SCV004100481 uncertain significance Hereditary factor VIII deficiency disease criteria provided, single submitter clinical testing The missense variant p.N583S in F8 (NM_000132.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It has been submitted to ClinVar as Likely Pathogenic but no details are available for independent assessment. The p.N583S variant is observed in 3/19,080 (0.0157%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. secondary protein structure as these residues share similar properties. For these reasons, this variant has been classified as Uncertain Significance.

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