ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.178_179del (p.Ile60fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002404073 SCV002713977 pathogenic Diamond-Blackfan anemia 2019-12-14 criteria provided, single submitter clinical testing The c.178_179delAT pathogenic mutation, located in coding exon 3 of the RPL5 gene, results from a deletion of two nucleotides at nucleotide positions 178 to 179, causing a translational frameshift with a predicted alternate stop codon (p.I60Hfs*52). 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.
Revvity Omics, Revvity RCV003134434 SCV003814025 likely pathogenic Diamond-Blackfan anemia 6 2023-01-12 criteria provided, single submitter clinical testing

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