Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501210 | SCV000597682 | uncertain significance | not specified | 2016-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000537678 | SCV000642575 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726286 | SCV000701332 | uncertain significance | not provided | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413382 | SCV002669648 | uncertain significance | Cardiovascular phenotype | 2019-05-08 | criteria provided, single submitter | clinical testing | The p.R26109H variant (also known as c.78326G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 78326. The arginine at codon 26109 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000501210 | SCV003801242 | uncertain significance | not specified | 2023-01-09 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.97817G>A (p.Arg32606His) results in a non-conservative amino acid change located in the M-Band region of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 249192 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.97817G>A has been reported in the literature in individuals affected with Dilated Cardiomyopathy (Mazzaroto_2020). This report does not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four 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. |
Revvity Omics, |
RCV000726286 | SCV003827300 | uncertain significance | not provided | 2019-05-24 | criteria provided, single submitter | clinical testing |