Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598013 | SCV000701452 | uncertain significance | not provided | 2017-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001382385 | SCV001581135 | pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-05-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 497143). This missense change has been observed in individuals with hereditary myopathy with early respiratory failure (PMID: 30666435; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 31784 of the TTN protein (p.Ala31784Val). |
Revvity Omics, |
RCV000598013 | SCV003819636 | uncertain significance | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing |