Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000339664 | SCV000337141 | uncertain significance | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000466365 | SCV000542844 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-05-10 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 31567 of the TTN protein (p.Asn31567Ser). There is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein splicing. It has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000339664 | SCV000981755 | likely benign | not provided | 2018-05-14 | 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. |
Ambry Genetics | RCV002365312 | SCV002663615 | uncertain significance | Cardiovascular phenotype | 2018-06-25 | criteria provided, single submitter | clinical testing | The p.N22502S variant (also known as c.67505A>G), located in coding exon 168 of the TTN gene, results from an A to G substitution at nucleotide position 67505. The asparagine at codon 22502 is replaced by serine, an amino acid with highly similar properties. This amino acid position is 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. |
Revvity Omics, |
RCV000339664 | SCV004237401 | uncertain significance | not provided | 2023-02-15 | criteria provided, single submitter | clinical testing |