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

gnomAD frequency: 0.00040  dbSNP: rs121918074

Total submissions: 19

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	2024-05-01	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