ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.21del (p.Asp8fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002425702 SCV002728699 pathogenic Diamond-Blackfan anemia 2017-06-09 criteria provided, single submitter clinical testing The c.21delA pathogenic mutation, located in coding exon 1 of the RPS19 gene, results from a deletion of one nucleotide at nucleotide position 21, causing a translational frameshift with a predicted alternate stop codon (p.D8Tfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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