ClinVar Miner

Submissions for variant NM_000505.3(F12):c.1681-1G>A (rs199988476)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000382012 SCV000456696 likely pathogenic F12-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing The c.1681-1G>A variant has been reported in at least three studies and is found in a total of one patient in a homozygous state, four patients in a compound heterozygous state and four patients in a heterozygous state (Schloesser et al. 1995; Schloesser et al. 1997; Xu-Cai et al. 2011). The c.1681-1G>A variant was also observed in a heterozygous state in four offspring of one of the compound heterozygote patients. These individuals also exhibited reduced factor XII activity and antigen levels. Gelincik et al. (2015) identified the c.1681-1G>A variant in a heterozygous state in one patient with HAE with normal C1-INH (type 3 HAE). Factor XII levels were within normal limits in this patient. The c.1681-1G>A variant was absent from 74 control individuals and is reported at a frequency of 0.00077 in the European (non-Finnish) population of the Exome Aggregation Consortium. Transcript analysis in two compound heterozygous patients and one homozygous patient with factor XII deficiency demonstrated aberrant splicing, suggesting that the c.1681-1G>A splice acceptor variant results in detectable transcript but unstable protein (Schloesser et al. 1995). Based on the collective evidence, the c.1681-1G>A variant is classified as likely pathogenic for F12-related disorders.
Illumina Clinical Services Laboratory,Illumina RCV000306437 SCV000484117 likely benign Hypophosphatemic Nephrolithiasis/Osteoporosis 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000001225 SCV000021375 pathogenic Factor XII deficiency disease 1995-07-01 no assertion criteria provided literature only

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