ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.705+7G>A (rs201916031)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000039391 SCV000514906 benign not specified 2015-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000587714 SCV000699491 benign not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: c.705+7G>A in TMEM43 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect the normal splicing pattern, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.000346 (42/121280 chrs tested), predominantly in individuals of European descent (0.0042; 28/66666 chrs tested). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.000025. The variant is present in a control population dataset of gnomAD at a frequency of 0.00038 (106/277038 chrs), further supporting benign outcome. The variant of interest has been reported in at least 2 ARVD individuals in published reports without sufficient evidence to rule in or rule out causality. It is cited as Likely Benign by reputable databases/clinical laboratories. Considering all, the variant was classified as Benign.
Invitae RCV000465121 SCV000557668 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039391 SCV000063075 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing c.705+7G>A in intron 8 of TMEM43: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has also been identified in 28/66666 European chromosomes by the Exome Aggregati on Consortium (ExAC,; dbSNP rs201916031).

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