Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |
Gene |
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 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
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 | 2020-04-16 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990084 | SCV001140875 | likely benign | Amyloidogenic transthyretin amyloidosis | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000714134 | SCV001151528 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
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, |
RCV001170385 | SCV001332962 | benign | Cardiomyopathy | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
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 |