ClinVar Miner

Submissions for variant NM_002546.4(TNFRSF11B):c.419_420del (p.Thr140fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985152 SCV004801447 likely pathogenic Hyperphosphatasemia with bone disease 2019-01-29 criteria provided, single submitter clinical testing The TNFRSF11B c.419_420delCA p.(Thr140SerfsTer13) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1); however, this frequency is based on one allele only in a region of good sequencing coverage. Based on the available evidence, the c.419_420delCA p.(Thr140SerfsTer13) variant is classified as likely pathogenic for juvenile Paget disease.

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