ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) (rs112226602)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036935 SCV000060591 likely benign not specified 2020-04-02 criteria provided, single submitter clinical testing The p.His343Tyr variant in RBM20 is classified as likely benign because it has been identified in 0.05% (12/22652) of South Asian chromosomes by gnomAD, and computational prediction tools and conservation analyses suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Invitae RCV000686647 SCV000814175 uncertain significance Dilated cardiomyopathy 1DD 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 343 of the RBM20 protein (p.His343Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs112226602, ExAC 0.08%). This variant has not been reported in the literature in individuals with RBM20-related disease. ClinVar contains an entry for this variant (Variation ID: 43963). Algorithms developed to predict the effect of missense changes on protein structure and function (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. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994506 SCV001148083 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256893 SCV001433391 uncertain significance Dilated cardiomyopathy 1A 2019-02-25 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157428 SCV000207172 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing

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