Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000713957 | SCV000237955 | likely benign | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221) |
Eurofins Ntd Llc |
RCV000713957 | SCV000334168 | uncertain significance | not provided | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000642996 | SCV000764683 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 35314 of the TTN protein (p.Ala35314Thr). This variant is present in population databases (rs377171054, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 203102). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Athena Diagnostics | RCV000713957 | SCV000844608 | uncertain significance | not provided | 2017-09-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000713957 | SCV003827366 | uncertain significance | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486759 | SCV004239808 | likely benign | Cardiomyopathy | 2023-03-23 | criteria provided, single submitter | clinical testing |