ClinVar Miner

Submissions for variant NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) (rs121964951)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493236 SCV000581896 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing The C548Y variant in the KLKB1 gene has been reported previously in prekallikrein deficiency, in an individual with prolonged activated partial thromboplastin time who was compound heterozygous for the C548Y variant and another variant (Lombardi et al., 2003). The C548Y variant is observed in 19/11574 (0.16%) alleles from individuals of Latino background, and in 68/66574 (0.10%) alleles from individuals of Non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The C548Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C548Y as a variant of uncertain significance.
OMIM RCV000012815 SCV000033055 pathogenic Prekallikrein deficiency 2003-12-01 no assertion criteria provided literature only

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