ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.679C>G (p.His227Asp) (rs201460674)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998000 SCV001153805 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170682 SCV001333276 uncertain significance Cardiomyopathy 2018-02-26 criteria provided, single submitter clinical testing
Color RCV001170682 SCV001357901 uncertain significance Cardiomyopathy 2019-08-26 criteria provided, single submitter clinical testing
Invitae RCV001210003 SCV001381466 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 227 of the TMEM43 protein (p.His227Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is present in population databases (rs201460674, ExAC 0.02%). This variant has not been reported in the literature in individuals with TMEM43-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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.

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