ClinVar Miner

Submissions for variant NM_000129.4(F13A1):c.691-1G>A

gnomAD frequency: 0.00005  dbSNP: rs372296352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000018002 SCV002051423 pathogenic Factor XIII, A subunit, deficiency of 2021-12-30 criteria provided, single submitter clinical testing Variant summary: F13A1 c.691-1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 3 acceptor site, with two of them also predicting it creates a cryptic exonic 3 acceptor site. Experimental evidence support these predictions indicating that this variant affects mRNA splicing, giving rise to two abnormal transcripts (Anwar_1998). The variant allele was found at a frequency of 4.4e-05 in 250184 control chromosomes (gnomAD). c.691-1G>A has been reported in the literature in multiple individuals affected with Factor XIIIA Deficiency and was shown to co-segregate with disease in at least one family (e.g. Anwar_1998, Schroeder_2006, Ivaskevicius_2007). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV002284178 SCV002573735 pathogenic not provided 2021-06-30 criteria provided, single submitter clinical testing PM2, PS3, PVS1_Strong
OMIM RCV000018002 SCV000038281 pathogenic Factor XIII, A subunit, deficiency of 2009-06-01 no assertion criteria provided literature only

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