ClinVar Miner

Submissions for variant NM_004917.4(KLK4):c.632del (p.Leu211fs) (rs556734208)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726118 SCV000342116 pathogenic not provided 2016-05-24 criteria provided, single submitter clinical testing
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000399535 SCV000494588 pathogenic Amelogenesis imperfecta, hypomaturation type, IIA1 2016-12-01 no assertion criteria provided research Variant leads to a frameshift within the final exon. Therefore it is expected that the transcript would escape nonsense mediated decay and a protein would be produced: NM_004908:p.L211Rfs*37. This protein would lack 3 cysteine residues known to be involved in forming 3 of 6 disulphide bonds important to the structure of the KLK4 protein.

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