Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001293494 | SCV001482077 | uncertain significance | not specified | 2021-02-08 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.70117_70119delGTT (p.Val23373del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 248558 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.70117_70119delGTT in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ambry Genetics | RCV002339717 | SCV002643583 | uncertain significance | Cardiovascular phenotype | 2020-09-01 | criteria provided, single submitter | clinical testing | The c.50626_50628delGTT variant (also known as p.V16876del) is located in coding exon 153 of the TTN gene. This variant results from an in-frame GTT deletion at nucleotide positions 50626 to 50628. This results in the in-frame deletion of a valine at codon 16876. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002486104 | SCV002797041 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2022-02-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003135918 | SCV003826011 | uncertain significance | not provided | 2019-12-17 | criteria provided, single submitter | clinical testing |