ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) (rs876657970)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221722 SCV000272347 uncertain significance not specified 2015-06-22 criteria provided, single submitter clinical testing The p.Met338Thr variant in RBM20 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Met338Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Met338Th r variant is uncertain.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852629 SCV000995333 likely benign Primary dilated cardiomyopathy 2019-05-14 criteria provided, single submitter clinical testing
Invitae RCV001206594 SCV001377909 uncertain significance Dilated cardiomyopathy 1DD 2019-10-06 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 338 of the RBM20 protein (p.Met338Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RBM20-related conditions. ClinVar contains an entry for this variant (Variation ID: 229181). 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: Not Available; PolyPhen-2: Benign; Align-GVGD: Class C0). 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV000852629 SCV001434753 uncertain significance Primary dilated cardiomyopathy no assertion criteria provided research

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