ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.*3_*11del (rs143948820)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036372 SCV000060024 benign not specified 2013-10-21 criteria provided, single submitter clinical testing *3_*11del in the 3' UTR of TTR: This variant is not expected to have clinical si gnificance because it has been identified in 2.8% (16/572) of Asian chromosomes from a broad population by the 1000 Genomes project (dbSNP rs143948820). *3_*1 1del in the 3' UTR of TTR (rs143948820; allele frequency = 2.8%, 16/572)
GeneDx RCV000036372 SCV000209364 benign not specified 2016-06-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000590565 SCV000696613 benign not provided 2016-12-06 criteria provided, single submitter clinical testing Variant summary: The TTR c.*3_*11delGACTTCTCC variant involves the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. This variant was found in 253/121230 control chromosomes (5 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.0262914 (227/8634). This frequency is about 841 times the estimated maximal expected allele frequency of a pathogenic TTR variant (0.0000313), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Ambry Genetics RCV000618035 SCV000735128 benign Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000590565 SCV000844808 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770563 SCV000902012 benign Cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173543 SCV001336633 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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