ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.52+7G>A (rs374443596)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036599 SCV000060254 likely benign not specified 2015-01-05 criteria provided, single submitter clinical testing c.52+7G>A in intron 3 of TNNT2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. This variant has been identified in 0.1% (12 /8766) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs374443596).
Invitae RCV001086777 SCV000262007 benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2020-11-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381877 SCV000353372 uncertain significance Cardiomyopathy, left ventricular noncompaction 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287633 SCV000353373 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342545 SCV000353374 uncertain significance Familial restrictive cardiomyopathy 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000406678 SCV000353375 uncertain significance Familial hypertrophic cardiomyopathy 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000036599 SCV000514923 benign not specified 2015-06-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587892 SCV000697565 benign not provided 2016-02-15 criteria provided, single submitter clinical testing Variant summary: c.52+7G>A affects a non-conserved nucleotide, resulting in an intronic change. Mutation taster predicts benign outcome. 4/5 programs in Alamut predict that this variant does not affect normal splicing. This variant was found in 22/121412 control chromosomes at a frequency of 0.0001812, predominantly observed in East Asian subpopulation with MAF of 0.001387. This frequency exceeds the maximal expected frequency of a pathogenic allele (0.00005), suggesting this variant is benign ethnic-specific polymorphism. This variant was reported in one DCM patient and was classified by authors as likely benign (Pugh_2014). In addition, multiple clinical laboratories (via ClinVar) classified this variant as benign/likely benign and one lab classified this variant as VUS. Taken together, this variant was classified as Benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769741 SCV000901163 likely benign Cardiomyopathy 2017-07-25 criteria provided, single submitter clinical testing

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