Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040230 | SCV000063921 | uncertain significance | not specified | 2013-10-29 | criteria provided, single submitter | clinical testing | The Ile11709Phe variant in TTN has been reported in one individual with DCM but did not segregated with disease in one affected relative. This variant has not been identified in large population studies. Computational analyses (biochemica l amino acid properties, conservation, AlignGVGD, and PolyPhen2) suggest that th is variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully as sess the clinical significance of this variant. |
Invitae | RCV000548833 | SCV000643161 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726926 | SCV000704204 | uncertain significance | not provided | 2016-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622109 | SCV000735846 | uncertain significance | Cardiovascular phenotype | 2017-04-21 | criteria provided, single submitter | clinical testing | The p.I5212F variant (also known as c.15634A>T), located in coding exon 59 of the TTN gene, results from an A to T substitution at nucleotide position 15634. The isoleucine at codon 5212 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available 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. |
Fulgent Genetics, |
RCV002490559 | SCV002792882 | 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 | 2021-07-26 | criteria provided, single submitter | clinical testing |