ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.65_68del (p.Gly22fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003226070 SCV003922174 likely pathogenic Diamond-Blackfan anemia 8 2023-05-02 criteria provided, single submitter curation The heterozygous p.Gly22AlafsTer10 variant in RPS7 was identified by our study in one individual with Diamond-Blackfan anemia. The p.Gly22AlafsTer10 variant in RPS7 has not has been not been previously reported in individuals with Diamond-Blackfan anemia 8. This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 22 and leads to a premature termination codon 10 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the RPS7 gene is an established disease mechanism in autosomal dominant Diamond-Blackfan anemia 8. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal dominant Diamond-Blackfan anemia 8. ACMG/AMP Criteria applied: PVS1, PM2_Supporting (Richards 2015).

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