Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000205837 | SCV000261413 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000253506 | SCV000318920 | likely benign | Cardiovascular phenotype | 2020-05-29 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Subpopulation frequency in support of benign classification |
Eurofins Ntd Llc |
RCV000298099 | SCV000334589 | uncertain significance | not provided | 2015-09-09 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825259 | SCV000966547 | likely benign | not specified | 2019-01-02 | criteria provided, single submitter | clinical testing | The p.Gly32411Ala variant in TTN is classified as likely benign because it has b een identified in 0.01% (18/128300) of European chromosomes by gnomAD (http://gn omad.broadinstitute.org) and was identified in trans with a likely pathogenic va riant. ACMG/AMP Criteria applied: BS1_Supporting, BP2. |
Gene |
RCV000298099 | SCV001785607 | likely benign | not provided | 2019-02-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221) |
CHEO Genetics Diagnostic Laboratory, |
RCV001798686 | SCV002042335 | uncertain significance | Cardiomyopathy | 2020-05-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000298099 | SCV003825589 | uncertain significance | not provided | 2022-06-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530234 | SCV004118214 | uncertain significance | TTN-related disorder | 2023-06-27 | criteria provided, single submitter | clinical testing | The TTN c.104936G>C variant is predicted to result in the amino acid substitution p.Gly34979Ala. This variant was reported in a large cohort study of individuals with dilated cardiomyopathy (Reported as chr2:g.179396406 in Supp. Table 3 Mazzarotto et al 2020. PubMed ID: 31983221). This variant is reported in 0.014% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179396406-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000825259 | SCV004121842 | uncertain significance | not specified | 2023-10-02 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.97232G>C (p.Gly32411Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-05 in 249104 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Dilated Cardiomyopathy (8e-05 vs 0.00039), allowing no conclusion about variant significance. c.97232G>C has been reported in the literature in an individual from a Dilated Cardiomyopathy cohort (Mazzarotto_2020). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 31983221). Seven submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS(n=4) and likely benign (n=3). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ce |
RCV000298099 | SCV004150176 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing |