Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643240 | SCV000764927 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764300 | SCV000895319 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000836270 | SCV000978112 | likely benign | not provided | 2018-03-15 | 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 | RCV002369697 | SCV002673429 | uncertain significance | Cardiovascular phenotype | 2020-01-16 | criteria provided, single submitter | clinical testing | The p.R24020H variant (also known as c.72059G>A), located in coding exon 181 of the TTN gene, results from a G to A substitution at nucleotide position 72059. The arginine at codon 24020 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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, |
RCV000836270 | SCV003822853 | uncertain significance | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533356 | SCV004120599 | uncertain significance | TTN-related disorder | 2022-12-29 | criteria provided, single submitter | clinical testing | The TTN c.99254G>A variant is predicted to result in the amino acid substitution p.Arg33085His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0066% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179403302-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |