ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.312G>A (p.Ala104=)

gnomAD frequency: 0.00009  dbSNP: rs145976784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806819 SCV000946838 uncertain significance Diamond-Blackfan anemia 10 2023-12-26 criteria provided, single submitter clinical testing This sequence change affects codon 104 of the RPS26 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPS26 protein. This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon. This variant is present in population databases (rs145976784, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RPS26-related conditions. ClinVar contains an entry for this variant (Variation ID: 651454). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000806819 SCV002785557 uncertain significance Diamond-Blackfan anemia 10 2022-05-03 criteria provided, single submitter clinical testing

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