ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)

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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 RCV002355543 SCV002619982 pathogenic Diamond-Blackfan anemia 2022-01-25 criteria provided, single submitter clinical testing The p.E129* pathogenic mutation (also known as c.385G>T), located in coding exon 5 of the RPL5 gene, results from a G to T substitution at nucleotide position 385. This changes the amino acid from a glutamic acid to a stop codon within coding exon 5. This alteration was detected as de novo in an individual with Diamond-Blackfan anemia (Roy NB et al. Br J Haematol, 2016 Oct;175:318-330). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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