ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.437A>G (p.Lys146Arg)

gnomAD frequency: 0.00005  dbSNP: 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 RCV000590383 SCV000209387 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Invitae RCV001084678 SCV000554849 likely benign Familial amyloid neuropathy 2024-01-31 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 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.

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