ClinVar Miner

Submissions for variant NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)

dbSNP: rs387906452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen RCV000010969 SCV004363668 pathogenic Hereditary factor VIII deficiency disease 2024-02-09 reviewed by expert panel curation The NM_000132.3(F8):c.4121_4124del (p.Ile1374fs) variant is a frameshift variant that is predicted to introduce a premature stop codon in exon 14 and expected to result in nonsense-mediated mRNA decay, which meets PVS1. It is reported in at least 7 patients with moderate or severe hemophilia A in the literature reviewed (PMID: 22103590, 20102490, 8307558, 9829908, 17498081, 20028422) meeting PS4_Very strong. There are additional probands with the variant reported in the EAHAD database, recorded from the literature. The variant is absent from gnomAD v2.1.1 and v3, which meets PM2_Supporting. In summary, this variant meets criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F8: PVS1, PS4, PM2_Supporting.
Fulgent Genetics, Fulgent Genetics RCV002490352 SCV002776346 pathogenic Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 2021-08-04 criteria provided, single submitter clinical testing
OMIM RCV000010969 SCV000031196 pathogenic Hereditary factor VIII deficiency disease 1993-12-01 no assertion criteria provided literature only
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000010969 SCV001424864 pathogenic Hereditary factor VIII deficiency disease 2019-06-01 no assertion criteria provided clinical testing

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