ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.184del (p.Val62fs) (rs1048457038)

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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 RCV000484862 SCV000704194 pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000484862 SCV000572825 likely pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing The c.184delG variant in the ISPD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.184delG variant causes a frameshift starting with codon Valine 62, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Val62SerfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Sufficient sequencing read depth from control individuals in the NHLBI Exome Sequencing Project and Exome Aggregation Consortium data sets was not available to assess whether the c.184delG variant may be a common benign variant in the general population; however, this variant has not been detected at any significant frequency in the internal database at GeneDx. We interpret c.184delG as a likely pathogenic variant.

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