Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000354852 | SCV000338443 | uncertain significance | not provided | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643469 | SCV000765156 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192480 | SCV001360625 | uncertain significance | not specified | 2019-11-05 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.2203T>C (p.Tyr735His) results in a conservative amino acid change located in the Z-disk region of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 250954 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.2203T>C in individuals affected with 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 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ambry Genetics | RCV002418118 | SCV002724868 | uncertain significance | Cardiovascular phenotype | 2020-02-21 | criteria provided, single submitter | clinical testing | The p.Y689H variant (also known as c.2065T>C), located in coding exon 12 of the TTN gene, results from a T to C substitution at nucleotide position 2065. The tyrosine at codon 689 is replaced by histidine, an amino acid with 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, |
RCV000354852 | SCV003821232 | uncertain significance | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing |