Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643847 | SCV000765534 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002051872 | SCV002319005 | uncertain significance | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion on 1 amino-acid in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875) |
Revvity Omics, |
RCV002051872 | SCV003821091 | uncertain significance | not provided | 2019-02-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323655 | SCV004029883 | uncertain significance | not specified | 2023-07-17 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.32072_32074delCAC (p.Pro10691del) results in an in-frame deletion that is predicted to remove one amino acids from the I-band region of the encoded protein. The variant allele was found at a frequency of 8.5e-06 in 236178 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.32072_32074delCAC in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |