ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.328C>A (p.His110Asn)

gnomAD frequency: 0.00040  dbSNP: rs121918074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152541 SCV000201745 benign not specified 2022-06-23 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ACMG/AMP Criteria applied: BA1.
Invitae RCV000014369 SCV000554847 benign Familial amyloid neuropathy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621211 SCV000740246 likely benign Cardiovascular phenotype 2017-10-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770556 SCV000902004 benign Cardiomyopathy 2018-06-11 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852746 SCV000995463 likely benign Heart failure 2018-07-03 criteria provided, single submitter clinical testing
Mendelics RCV000014369 SCV001140873 benign Familial amyloid neuropathy 2023-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000857889 SCV001151525 benign not provided 2024-03-01 criteria provided, single submitter clinical testing TTR: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000857889 SCV001157560 likely benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000014369 SCV001280820 uncertain significance Familial amyloid neuropathy 2017-04-28 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173306 SCV001336390 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256816 SCV001433273 uncertain significance Hypertrophic cardiomyopathy 1 2020-02-29 criteria provided, single submitter clinical testing
GeneDx RCV000857889 SCV001940485 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 7923855, 8102146, 1850190)
Genetic Services Laboratory, University of Chicago RCV000152541 SCV002068559 benign not specified 2021-06-17 criteria provided, single submitter clinical testing
OMIM RCV000014369 SCV000034618 pathogenic Familial amyloid neuropathy 1992-07-01 no assertion criteria provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000014369 SCV000053247 benign Familial amyloid neuropathy 2015-05-14 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000857889 SCV001922695 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000857889 SCV001927065 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000857889 SCV001953660 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000857889 SCV001963462 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.