ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1029C>T (p.Thr343=)

gnomAD frequency: 0.06792  dbSNP: rs3739817
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155540 SCV000168330 benign not specified 2013-10-22 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155540 SCV000205239 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr343Thr in exon 8 of ENG: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 8.0% (691/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3739817).
PreventionGenetics, part of Exact Sciences RCV000155540 SCV000302329 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321720 SCV000477336 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000321720 SCV000603449 benign Telangiectasia, hereditary hemorrhagic, type 1 2023-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515050 SCV001723036 benign Hereditary hemorrhagic telangiectasia 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155540 SCV001774712 benign not specified 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381438 SCV002693289 benign Cardiovascular phenotype 2015-08-05 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004706569 SCV005227522 likely benign not provided criteria provided, single submitter not provided

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