ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.76G>A (p.Gly26Ser) (rs1800458)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036379 SCV000060034 benign not specified 2011-04-22 criteria provided, single submitter clinical testing The Gly26Ser (a.k.a. Gly6Ser) variant is considered a benign change based on hi gh population frequency (allele frequency up to 16%; dbSNP 1800458) and lack of evolutionary conservation.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036379 SCV000110534 benign not specified 2013-05-08 criteria provided, single submitter clinical testing
GeneDx RCV001711070 SCV000169668 benign not provided 2018-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28911993, 26959691, 7868124, 29520877, 2040864)
PreventionGenetics,PreventionGenetics RCV000036379 SCV000303887 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250966 SCV000317545 benign Cardiovascular phenotype 2015-06-21 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283223 SCV000605509 benign none provided 2020-08-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000036379 SCV000740390 benign not specified 2016-06-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001127884 SCV001287242 benign Amyloidogenic transthyretin amyloidosis 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173541 SCV001336631 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001127884 SCV001722417 benign Amyloidogenic transthyretin amyloidosis 2020-12-04 criteria provided, single submitter clinical testing
OMIM RCV000014394 SCV000034643 benign TRANSTHYRETIN POLYMORPHISM 2018-06-14 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036379 SCV001741857 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000036379 SCV001925493 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036379 SCV001926313 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000036379 SCV001954194 benign not specified no assertion criteria provided clinical testing

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