ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) (rs397516395)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000310785 SCV000393217 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358602 SCV000393218 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858080 SCV000558814 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618089 SCV000736917 likely benign Cardiovascular phenotype 2017-09-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Color RCV000771818 SCV000904521 likely benign Cardiomyopathy 2018-10-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036369 SCV000060021 uncertain significance not specified 2008-03-01 no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000036369 SCV000280547 uncertain significance not specified 2012-12-02 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Thr282Ser (c.845C>G) in the TPM1 gene was identified. This variant is novel. It has not been reported in association with disease nor as a common polymorphism. This is a conserved amino acid change of a polar Threonine replaced with a polar Serine. Threonine is highly conserved across species at position 282 in the TPM1 gene. A variant in a neighboring codon (Met281Thr) has been reported in association with Hypertrophic Cardiomyopathy (van Driest et al 2003). There are no other reported variants associated with disease in this region. In silico analysis predicts the amino acid change to be benign to protein function (PolyPhen 2). This variant was not observed in 100 presumably healthy control individuals of Caucasian descent at GeneDx. Additionally GeneDx did note the presence of the variant in a patient who was tested for HCM, this individual also carried a disease causing variant in a different sarcomere gene. The variant is not listed in either dbSNP or 1000 genomes (as of July 5th, 2011).

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