Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
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 |