ClinVar Miner

Submissions for variant NM_000892.5(KLKB1):c.143_221+128del

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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 RCV002467397 SCV002762669 pathogenic Inherited prekallikrein deficiency 2022-12-06 criteria provided, single submitter clinical testing We identified this deletion, NM_000892.4(KLKB1):c.143_221+128del, in an Iranian family using medical exome sequencing (Barco et al. PMID: 32202057). One daughter presented with a severely prolonged aPTT due to prekallikrein (PK) deficiency (1.3% PK activity) and bleeding symptoms due to Bernard-Soulier syndrome (Shahverdi et al. PMID: 29043243). She was homozygous for the variant; their parents were both heterozygous. This deletion is not included in dbSNP and due to its rarity, correlation with phenotype, and clearly deleterious nature, we have classified this variant as pathogenic (ACMG guideline).

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