ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) (rs754797146)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000587222 SCV000236443 likely benign not provided 2019-11-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001082943 SCV000642093 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2020-11-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587222 SCV000699488 likely benign not provided 2017-01-30 criteria provided, single submitter clinical testing Variant summary: The TMEM43 c.286C>G (p.Arg96Gly) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 27/119640 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.002257 (26/11522). This frequency is about 226 times the estimated maximal expected allele frequency of a pathogenic TMEM43 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance, without evidence for independent evaluation. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Ambry Genetics RCV000621344 SCV000737039 uncertain significance Cardiovascular phenotype 2017-10-20 criteria provided, single submitter clinical testing The p.R96G variant (also known as c.286C>G), located in coding exon 3 of the TMEM43 gene, results from a C to G substitution at nucleotide position 286. The arginine at codon 96 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852546 SCV000995245 uncertain significance Cardiomyopathy 2017-04-12 criteria provided, single submitter clinical testing
Color Health, Inc RCV000852546 SCV001339299 likely benign Cardiomyopathy 2018-11-07 criteria provided, single submitter clinical testing

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