Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000246090 | SCV000318835 | uncertain significance | Cardiovascular phenotype | 2013-07-26 | criteria provided, single submitter | clinical testing | The p.D15471N variant (also known as c.46411G>A) is located in coding exon 228 of theTTNgene. This alteration results from a G to A substitution at nucleotide position 46411. The aspartic acid at codon 15471 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6053 samples (12106 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging by PolyPhen, yet tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Invitae | RCV000543552 | SCV000643355 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-20 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508475 | SCV001714652 | uncertain significance | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508475 | SCV001813359 | likely benign | not provided | 2020-05-19 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001508475 | SCV003825584 | uncertain significance | not provided | 2020-09-08 | criteria provided, single submitter | clinical testing |