ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.406C>G (p.Pro136Ala)

dbSNP: rs1661370560
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060905 SCV001225625 uncertain significance Diamond-Blackfan anemia 8 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 136 of the RPS7 protein (p.Pro136Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 855605). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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