ClinVar Miner

Submissions for variant NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) (rs28933673)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000601703 SCV000731569 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1057Ly s (NM_000132.3 c.3169G>A) variant in F8 has been reported hemizygously in three males with Hemophilia A and low factor VIII levels, though one of these individu als carried a second pathogenic variant (Higuchi 1991, Chan 1996, Huang 2009). T his variant has also been reported in ClinVar (Variation ID#10251). This variant has been identified in 0.7% (95/13902) of East Asian chromosomes, including 1 h omozygote and 29 hemizygotes, by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs28933673). In vitro functional studies provi de some evidence that the p.Glu1057Lys variant may impact protein function (Pahl 2014); however, these types of assays may not accurately represent biological f unction. In summary, while there is some suspicion for a pathogenic role, the cl inical significance of the p.Glu1057Lys variant is uncertain.
OMIM RCV000010964 SCV000031191 pathogenic Hereditary factor VIII deficiency disease 1993-02-01 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000010964 SCV000267308 likely pathogenic Hereditary factor VIII deficiency disease 2016-03-18 criteria provided, single submitter reference population
UCLA Clinical Genomics Center, UCLA RCV000010964 SCV000255367 likely pathogenic Hereditary factor VIII deficiency disease 2013-04-16 criteria provided, single submitter clinical testing

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