ClinVar Miner

Submissions for variant NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) (rs782198570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000403190 SCV000482092 uncertain significance Hereditary factor VIII deficiency disease 2017-04-28 criteria provided, single submitter clinical testing The F8 c.6623A>G (p.Gln2208Arg) variant is a missense variant that has been reported in three studies, where it was found in a hemizygous state in a total of five unrelated male patients with mild to moderate hemophilia A (Fernández-López et al. 2005; Silva Pinto et al. 2012; Bastida et al. 2015). Control data are unavailable for this variant, which is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium. This frequency is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. Based on in silico modeling, Markoff et al. (2009) predicted that the p.Gln2208Arg variant would cause the loss of cross-chain hydrogen bonds. The evidence for this variant is limited. The p.Gln2208Arg variant is classified as a variant of unknown significance but suspicious for pathogenicity for hemophilia A. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Mendelics RCV000403190 SCV001142118 likely pathogenic Hereditary factor VIII deficiency disease 2019-05-28 criteria provided, single submitter clinical testing

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