ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)

gnomAD frequency: 0.00002  dbSNP: rs768211726
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600232 SCV000717637 likely benign not specified 2017-03-24 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.
Eurofins Ntd Llc (ga) RCV000731374 SCV000859184 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000600232 SCV002819682 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing Variant summary: TTN c.1450G>A (p.Asp484Asn) results in a conservative amino acid change located in the Z disk region of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.2e-05 in 251388 control chromosomes, predominantly at a frequency of 0.0004 within the Latino subpopulation in the gnomAD database. This frequency is not higher than predicted for a pathogenic variant in TTN causing Dilated Cardiomyopathy (7.2e-05 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1450G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign/likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity Omics RCV000731374 SCV003827394 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing

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