ClinVar Miner

Submissions for variant NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn)

dbSNP: rs142420360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz RCV002463563 SCV002604969 likely pathogenic Inherited prekallikrein deficiency criteria provided, single submitter clinical testing This variant was found in an individual with no prekallikrein (PK) activity, 9% PK antigen, and a prolonged aPTT. Using sanger sequencing, we detected the variants c.689T>A p.(Ile230Asn) and c.1643G>A p.(Cys548Tyr) in KLKB1 (NM_000892.4) in compound heterozygosity (PMID: 32202057). The case was originally sequenced and published in a German PhD thesis (urn:nbn:de:hebis:30-67544). In this thesis, the author also describes a second unrelated case with PK deficiency who is compound heterozygous for the same two variants (c.689T>A and c.1643G>A). The missense variant c.689T>A has a MAF of <1% (dbSNP), and prediction tools (PolyPhen2, SIFT, PROVEAN, MutationTaster) all predicted a deleterious effect. Therefore, we classified it as likely pathogenic in accordance with ACMG guidelines .

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