Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537759 | SCV000643678 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619486 | SCV000736709 | uncertain significance | Cardiovascular phenotype | 2019-11-26 | criteria provided, single submitter | clinical testing | The p.R2494C variant (also known as c.7480C>T), located in coding exon 31 of the TTN gene, results from a C to T substitution at nucleotide position 7480. The arginine at codon 2494 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly 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. |
Athena Diagnostics Inc | RCV000714095 | SCV000844762 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000714095 | SCV000855290 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170103 | SCV001332642 | likely benign | Cardiomyopathy | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193720 | SCV001362769 | uncertain significance | not specified | 2019-10-07 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.7618C>T (p.Arg2540Cys) results in a non-conservative amino acid change located in the I-band 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 5.2e-05 in 249808 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Cardiomyopathy (5.2e-05 vs 0.00063), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.7618C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. In an internal LCA specimen this variant co-occurred with another pathogenic variant (MYH7 c.2539A>G, p.Lys847Glu), providing supporting evidence for a benign role. Four ClinVar submitters (evaluation after 2014) cite this variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Fulgent Genetics, |
RCV002476170 | SCV002775094 | 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 | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000714095 | SCV003820329 | uncertain significance | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing |