Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000249569 | SCV000319082 | uncertain significance | Cardiovascular phenotype | 2013-11-19 | criteria provided, single submitter | clinical testing | The p.A3636V variant (also known as c.10907C>T) is located in coding exon 46 of the TTNgene. This alteration results from a C to T substitution at nucleotide position 10907. The alanine at codon 3636 is replaced by valine, an amino acid with some similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the T-allele has an overall frequency of approximately:0.02% (2/11960), having been observed in0.05% (2/3742)of African American alleles, and not observed in 8218 of European American alleles studied.This variant was not reported in population-based cohorts in the Database of Single Nucleotide Polymorphisms (dbSNP) or the 1000 Genomes Project. Based on protein sequence alignment, this amino acid position is conserved through mammalians, but is not conserved in lower species.In addition, this alteration is predicted to be possibly damaging by PolyPhen in silicoanalysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Gene |
RCV001546129 | SCV001765593 | likely benign | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001546129 | SCV003820230 | uncertain significance | not provided | 2019-05-09 | criteria provided, single submitter | clinical testing |