ClinVar Miner

Submissions for variant NM_000129.3(F13A1):c.782G>A (p.Arg261His) (rs121913071)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina 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.
OMIM RCV000017995 SCV000038274 pathogenic Factor XIII, A subunit, deficiency of 1999-01-01 no assertion criteria provided literature only

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