ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.437A>G (p.Lys146Arg) (rs536294863)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159441 SCV000209387 likely benign not specified 2016-12-22 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.
Invitae RCV001084678 SCV000554849 likely benign Amyloidogenic transthyretin amyloidosis 2020-11-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590383 SCV000696636 benign not provided 2017-05-18 criteria provided, single submitter clinical testing Variant summary: The TTR c.437A>G (p.Lys146Arg) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant. This variant was found in 48/121306 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.004151 (48/11564). This frequency is about 133 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 Latino origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as benign.
Ambry Genetics RCV000620635 SCV000735579 likely benign Cardiovascular phenotype 2019-04-27 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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