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

dbSNP: rs766223850

Total submissions: 3

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.