ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.12-7del (rs370714315)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036269 SCV000059921 likely benign not specified 2012-08-01 criteria provided, single submitter clinical testing 12-7delC in intron 1 of TNNI3: This variant is unlikely to have clinical signifi cance because it is not located within the conserved splice consensus sequence. In addition, there are no reports of disease-causing splicing variants in the TN NI3 gene. Of note, the variant has been detected by our laboratory in 5 individu als with various cardiomyopathies (HCM or LVNC), 4 of whom were of confirmed Bla ck ancestry. This raises the possibility that this variant is common in the Bla ck population. A modifying effect cannot be excluded.
GeneDx RCV000159208 SCV000209154 benign Cardiomyopathy 2012-07-26 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036269 SCV000227105 benign not specified 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000232527 SCV000284651 benign Hypertrophic cardiomyopathy 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297174 SCV000414777 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356727 SCV000414778 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263491 SCV000414779 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232527 SCV000414780 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036269 SCV000920308 benign not specified 2017-09-05 criteria provided, single submitter clinical testing Variant summary: The TNNI3 c.12-7delC variant involves the alteration of a non-conserved intronic nucleotide. MutationTaster predicts a benign 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 52/108562 control chromosomes from all ethnicities, but was predominantly observed in the African subpopulation at a frequency of 0.005965 (50/8382). This frequency is about 48 times the estimated maximal expected allele frequency of a pathogenic TNNI3 variant (0.000125), strongly suggesting this is likely a benign polymorphism found primarily in populations of African origin. In addition, nn an internal LCA sample, the variant was found to co-occur with a pathogenic DSP mutation (c.1dupA), suggesting the variant is not responsible for disease in this individual. Multiple clinical diagnostic laboratories/reputable databases have classified this variant with differing interpretations, including uncertain significance, likely benign, and benign, with a classification of benign being the most recent. Taken together, this variant is classified as benign.
Mendelics RCV000991061 SCV001142166 benign Familial hypertrophic cardiomyopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000159208 SCV001355396 benign Cardiomyopathy 2019-11-21 criteria provided, single submitter clinical testing

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