ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.222dup (p.Val75fs)

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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 RCV002428225 SCV002728896 pathogenic Diamond-Blackfan anemia 2017-01-19 criteria provided, single submitter clinical testing The c.222dupA pathogenic mutation, located in coding exon 4 of the RPL5 gene, results from a duplication of A at nucleotide position 222, causing a translational frameshift with a predicted alternate stop codon (p.V75Sfs*38). 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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