ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.517A>G (p.Ile173Val)

gnomAD frequency: 0.00003  dbSNP: rs754245145
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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 RCV001992557 SCV002222962 uncertain significance Diamond-Blackfan anemia 2021-01-15 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RPL5-related conditions. This variant is present in population databases (rs754245145, ExAC 0.02%). This sequence change replaces isoleucine with valine at codon 173 of the RPL5 protein (p.Ile173Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Fulgent Genetics, Fulgent Genetics RCV002484746 SCV002792716 uncertain significance Diamond-Blackfan anemia 6 2022-04-15 criteria provided, single submitter clinical testing

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