ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.164C>T (p.Thr55Met)

gnomAD frequency: 0.00039  dbSNP: rs147508369
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471188 SCV000553774 uncertain significance Diamond-Blackfan anemia 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 55 of the RPS19 protein (p.Thr55Met). This variant is present in population databases (rs147508369, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 12586610). ClinVar contains an entry for this variant (Variation ID: 242753). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change does not substantially affect RPS19 function (PMID: 12586610). 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.
Baylor Genetics RCV001331478 SCV001523520 uncertain significance Diamond-Blackfan anemia 1 2020-04-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001507957 SCV001713818 uncertain significance not provided 2020-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001331478 SCV002775163 likely benign Diamond-Blackfan anemia 1 2024-03-04 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV001331478 SCV005420996 uncertain significance Diamond-Blackfan anemia 1 2024-09-10 criteria provided, single submitter clinical testing
Molecular Oncology - Human Genetics Lab, University of Sao Paulo RCV001843501 SCV002103103 uncertain significance Hepatoblastoma no assertion criteria provided research

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