Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000185112 | SCV000237937 | likely benign | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29109008) |
Invitae | RCV002516954 | SCV003480447 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 35017 of the TTN protein (p.Thr35017Ala). This variant is present in population databases (rs368779151, gnomAD 0.04%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 29109008). This variant is also known as c.100126A>G (p.Thr33376Ala). ClinVar contains an entry for this variant (Variation ID: 203089). 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. |
Revvity Omics, |
RCV000185112 | SCV003820146 | uncertain significance | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000185112 | SCV001924288 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000185112 | SCV001963229 | uncertain significance | not provided | no assertion criteria provided | clinical testing |