ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.564C>T (p.Gly188=) (rs143124744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251873 SCV000319704 likely benign Cardiovascular phenotype 2015-05-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000464528 SCV000545861 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-05-25 criteria provided, single submitter clinical testing This sequence change affects codon 188 of the TMEM43 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TMEM43 protein. This variant is present in population databases (rs143124744, ExAC 0.06%). This variant has not been reported in the literature in individuals with TMEM43-related disease. ClinVar contains an entry for this variant (Variation ID: 264054). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825843 SCV000967322 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gly188Gly in Exon 07 of TMEM43: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 0.1% (3/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs143124744).

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