ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.4-4G>T

dbSNP: rs2136753773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191214 SCV002488827 likely benign Diamond-Blackfan anemia 10 2022-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331834 SCV002639701 uncertain significance Diamond-Blackfan anemia 2015-09-02 criteria provided, single submitter clinical testing The c.4-4G>T intronic variant results from a G to T substitution 4 nucleotides upstream from coding exon 2 in the RPS26 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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