ClinVar Miner

Submissions for variant NM_000132.4(F8):c.601+1632G>A

gnomAD frequency: 0.00002  dbSNP: rs387906429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003407314 SCV004113503 uncertain significance F8-related disorder 2023-04-04 criteria provided, single submitter clinical testing The F8 c.601+1632G>A variant is predicted to interfere with splicing. This variant has been reported in the hemizygous state in two male siblings with mild Hemophilia A and in the heterozygous state in their mother with unknown phenotype (Youssoufian et al. 1988. PubMed ID: 2838411). Functional study and Alamut evaluation showed that this variant leads to a defect in RNA processing and reduces F8 protein levels (Youssoufian et al. 1988. PubMed ID: 2838411; Zimmermann et al. 2012. PubMed ID: 23088352). This variant is reported in 1 (hemizygous) of 13922 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/X-154219579-C-T). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000010809 SCV000031036 pathogenic Hereditary factor VIII deficiency disease 1988-05-01 no assertion criteria provided literature only

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