ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.*9TCC[1]

dbSNP: rs766223850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482219 SCV000570357 likely benign not specified 2016-05-17 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.
CeGaT Center for Human Genetics Tuebingen RCV001726189 SCV001961743 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000482219 SCV002571799 uncertain significance not specified 2022-08-06 criteria provided, single submitter clinical testing Variant summary: TTR c.*12_*14delTCC is located in the untranslated mRNA region downstream of the termination codon. The variant was absent in 251416 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*12_*14delTCC in individuals affected with Transthyretin Amyloidosis and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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