ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.77C>T (p.Ala26Val)

gnomAD frequency: 0.00001  dbSNP: rs939123022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912905 SCV002172905 uncertain significance Diamond-Blackfan anemia 8 2021-03-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RPS7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 26 of the RPS7 protein (p.Ala26Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Fulgent Genetics, Fulgent Genetics RCV001912905 SCV002816155 uncertain significance Diamond-Blackfan anemia 8 2022-01-07 criteria provided, single submitter clinical testing
GeneDx RCV004770270 SCV005376380 uncertain significance not provided 2023-10-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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