ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.157del (p.Asp53fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Supratech Reference Laboratories Pvt Ltd,Neuberg Centre for Genomic Medicine RCV001507086 SCV001712059 likely pathogenic Diamond-Blackfan anemia 3 criteria provided, single submitter clinical testing The frameshift deletion NM_033022.4(RPS24):c.157delG (p.Asp53Metfs*22) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp53Metfs*22 variant is novel (not in any individuals) in gnomAD. The p.Asp53Metfs*22 variant is novel (not in any individuals) in 1kG. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The frame shifted sequence continues 22 residues until a stop codon is reached. For these reasons, this variant has been classified as Likely Pathogenic.

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