Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525104 | SCV000643803 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618185 | SCV000737129 | uncertain significance | Cardiovascular phenotype | 2020-05-20 | criteria provided, single submitter | clinical testing | The p.Y19561H variant (also known as c.58681T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 58681. The tyrosine at codon 19561 is replaced by histidine, an amino acid with 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. |
ARUP Laboratories, |
RCV001811052 | SCV002048454 | uncertain significance | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing | The TTN c.85876T>C; p.Tyr28626His variant (rs1477861188; ClinVar Variation ID: 467573) is rare in the general population (<0.2% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Tyr28626His variant cannot be determined with certainty. References: Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28. |
Revvity Omics, |
RCV001811052 | SCV003826032 | uncertain significance | not provided | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001811052 | SCV004225797 | uncertain significance | not provided | 2022-02-03 | criteria provided, single submitter | clinical testing | BP4, PM2_supporting |