ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.163-3del (rs371706980)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155588 SCV000205296 benign not specified 2015-06-23 criteria provided, single submitter clinical testing c.163-3delC in intron 2 of TMEM43: This variant is not expected to have clinical significance because it has been identified in 3.2% (511/16198) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs371706980).
Invitae RCV001081505 SCV000557663 benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-12-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590766 SCV000699487 benign not provided 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The TMEM43 c.163-3delC variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 518/120724 control chromosomes (12 homozygotes), predominantly observed in the South Asian subpopulation at a frequency of 0.031547 (511/16198). This frequency is about 3155 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 South Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. 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 benign.
Ambry Genetics RCV000617795 SCV000737455 benign Cardiovascular phenotype 2018-08-01 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770179 SCV000901606 benign Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing
Color RCV000770179 SCV000902784 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing

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