ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.416C>T (p.Thr139Met) (rs28933981)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036376 SCV000060029 likely benign not specified 2012-05-02 criteria provided, single submitter clinical testing p.Thr139Met in exon 4 of TTR: This variant has been identified in 0.2% (164/6672 6) of European chromosomes from a broad population by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs28933981). This variant h as been reported in both unaffected individuals as well as in individuals with a symptomatic euthyroid hyperthyroxinemia (Scrimshaw 1992, Alves 1997), and functi onal and clinical studies indicate that this variant may provide protective bene fit against TTR amyloidosis by improving protein stability and reducing the prop ensity to form amyloidogenic aggregates (Quintas 1997, Almeida 2000, Hammarstrom 2001, Costa 2008, Palhano 2009, Borgault 2011).
GeneDx RCV000036376 SCV000169669 benign not specified 2013-05-22 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.
Invitae RCV000990084 SCV000554851 benign Amyloidogenic transthyretin amyloidosis 2020-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281790 SCV000605506 benign none provided 2020-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618448 SCV000735097 likely benign Cardiovascular phenotype 2018-05-08 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Intact protein function observed in appropriate functional assay(s);Other strong data supporting benign classification;Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000036376 SCV000844811 benign not specified 2020-12-22 criteria provided, single submitter clinical testing
Mendelics RCV000990084 SCV001140875 likely benign Amyloidogenic transthyretin amyloidosis 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000714134 SCV001151528 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000990084 SCV001284998 benign Amyloidogenic transthyretin amyloidosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170385 SCV001332962 benign Cardiomyopathy 2018-06-21 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173303 SCV001336387 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000014376 SCV000034625 risk factor AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF 2001-09-28 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000714134 SCV001739892 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000714134 SCV001923328 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000714134 SCV001926809 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000714134 SCV001958177 likely benign not provided no assertion criteria provided clinical testing

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