Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040116 | SCV000063807 | likely benign | not specified | 2014-03-19 | criteria provided, single submitter | clinical testing | Val911Ile in exon16 of TTN: This variant has been identified in 1/4406 African A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs141961878). It is not expected to have clinical significan ce due to a lack of evolutionary conservation. Of note, 4 mammalian species (gib bon, pika, white rhinoceros, and tasmanian devil) have an isoleucine (Ile) at th is position despite high nearby amino acid conservation. |
Eurofins Ntd Llc |
RCV000725691 | SCV000338650 | uncertain significance | not provided | 2016-03-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000456367 | SCV000542342 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433509 | SCV002745423 | uncertain significance | Cardiovascular phenotype | 2019-08-27 | criteria provided, single submitter | clinical testing | The p.V865I variant (also known as c.2593G>A), located in coding exon 14 of the TTN gene, results from a G to A substitution at nucleotide position 2593. The valine at codon 865 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000725691 | SCV003819746 | uncertain significance | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725691 | SCV004148220 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |
Athena Diagnostics | RCV000725691 | SCV004229378 | uncertain significance | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |