Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000017995 | SCV000464376 | uncertain significance | Factor XIII, A subunit, deficiency of | 2016-09-28 | criteria provided, single submitter | clinical testing | The F13A1 c.782G>A (p.Arg261His) variant is a missense variant that has been reported in two studies, in which it was found in a homozygous state in a total of two individuals with factor XIII subunit A deficiency (Kangsadalampai et al. 1999; Peyvandi et al. 2004). The variant was also found in a heterozygous state in the unaffected parents of one of these individuals (Kangsadalampai et al. 1999). Control data are unavailable for this variant, which is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium. However, this frequency is based on one allele only in a region of good sequencing coverage, and the variant is presumed to be rare. Functional studies showed that compared to wildtype, the p.Arg261His variant protein is expressed at a lower level and has reduced transglutaminase activity in yeast (Kangsadalampai et al. 1999). Based on the evidence, the p.Arg261His variant is classified as a variant of unknown significance but suspicious for pathogenicity for factor XIII subunit A deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Mayo Clinic Laboratories, |
RCV004791226 | SCV005413713 | pathogenic | not provided | 2024-09-17 | criteria provided, single submitter | clinical testing | PP3, PM1, PM2, PS3, PS4_moderate |
| OMIM | RCV000017995 | SCV000038274 | pathogenic | Factor XIII, A subunit, deficiency of | 1999-01-01 | no assertion criteria provided | literature only |