ClinVar Miner

Submissions for variant NM_000505.3(F12):c.158A>G (p.Tyr53Cys) (rs118204455)

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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 RCV000778921 SCV000915334 uncertain significance Factor XII deficiency disease 2017-04-27 criteria provided, single submitter clinical testing The F12 c.158A>G (p.Tyr53Cys) missense variant, also known as the factor XII Tenri variant, has been reported in one study in which it is found in one consanguineous family (Kondo et al. 1999). Kondo et al. (1999) identified the p.Tyr53Cys variant in a homozygous state in one asymptomatic individual with low but detectable blood antigen and activity levels of factor XII (3% of wild type). The variant was also found in a heterozygous state in the proband's unaffected consanguineous parents and sister who all showed reduced blood antigen and activity levels (35% of wild type). Functional studies showed that the variant protein was extensively degraded intracellularly in the endoplasmic reticulum and that a small amount of factor XII Tenri that forms a disulphide-linked heterodimer with alpha1-microglobulin is secreted into the blood stream. Control data are unavailable for this variant, which is not reported in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database. The evidence for this variant is limited. The p.Tyr53Cys variant is classified as unknown significance, but suspicious for pathogenicity for factor XII deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000001227 SCV000021377 pathogenic FACTOR XII (TENRI) 1999-06-15 no assertion criteria provided literature only

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