ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs) (rs746672224)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000454779 SCV000615818 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000642429 SCV000441307 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-04-27 criteria provided, single submitter clinical testing The TMEM43 c.1120_1121delCT (p.Leu374ValfsTer49) variant results in a frameshift, and is predicted to cause an elongation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.002852 in the Latino population of the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Leu374ValfsTer49 variant is classified as a variant of unknown significance but suspicious for pathogenicity for cardiomyopathy, ARVC. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000642429 SCV000764107 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-10-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454779 SCV000540549 uncertain significance not specified 2017-03-01 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: High ExAC freq. No LoF variants in HGMD

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