Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221067 | SCV000272762 | uncertain significance | not specified | 2015-06-11 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Pro22930Ala v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.1% (12/15990) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3777 54701). Proline (Pro) at position 22930 is not conserved in evolution, and 3 fis h (coelacanth, fugu and spotted gar) carry an alanine (Ala) at this position, ra ising the possibility that this change may be tolerated. In summary, while the c linical significance of the p.Pro22930Ala variant is uncertain, its frequency an d lack of evolutionary conservation suggest that it is more likely to be benign. |
Invitae | RCV000542112 | SCV000643681 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338689 | SCV002642090 | uncertain significance | Cardiovascular phenotype | 2019-08-06 | criteria provided, single submitter | clinical testing | The p.P16433A variant (also known as c.49297C>G), located in coding exon 153 of the TTN gene, results from a C to G substitution at nucleotide position 49297. The proline at codon 16433 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well 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, |
RCV003137816 | SCV003819773 | uncertain significance | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing |