ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)

gnomAD frequency: 0.00006  dbSNP: rs782368794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519101 SCV000619545 uncertain significance not provided 2017-07-24 criteria provided, single submitter clinical testing The A70T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 3/64408 (0.0047%) alleles from individuals of European background in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, A70T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Alanine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001853648 SCV002134672 uncertain significance Diamond-Blackfan anemia 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 70 of the RPS19 protein (p.Ala70Thr). This variant is present in population databases (rs782368794, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RPS19-related conditions. ClinVar contains an entry for this variant (Variation ID: 450916). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002490913 SCV002783415 uncertain significance Diamond-Blackfan anemia 1 2022-03-15 criteria provided, single submitter clinical testing

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