Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
RCV000731374 | SCV000859184 | uncertain significance | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
RCV000731374 | SCV003827394 | uncertain significance | not provided | 2019-05-07 | criteria provided, single submitter | clinical testing |