ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)

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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 RCV002333052 SCV002628544 pathogenic Diamond-Blackfan anemia 2020-12-02 criteria provided, single submitter clinical testing The p.Q138* pathogenic mutation (also known as c.412C>T), located in coding exon 5 of the RPL5 gene, results from a C to T substitution at nucleotide position 412. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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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