Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037154 | SCV000060811 | likely benign | not specified | 2012-07-02 | criteria provided, single submitter | clinical testing | Leu94Leu in exon 3 of CTF1: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Leu94Leu in exon 3 of CTF1 (allele frequency = n/a) |
Invitae | RCV000545312 | SCV000659706 | likely benign | Dilated Cardiomyopathy, Dominant | 2024-01-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000037154 | SCV001159283 | likely benign | not specified | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037154 | SCV001361494 | benign | not specified | 2019-03-07 | criteria provided, single submitter | clinical testing | Variant summary: CTF1 c.280C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00052 in 27054 control chromosomes. The observed variant frequency is approximately 21 fold of the estimated maximal expected allele frequency for a pathogenic variant in CTF1 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.280C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign. |
CHEO Genetics Diagnostic Laboratory, |
RCV003149633 | SCV003838809 | likely benign | Cardiomyopathy | 2021-06-01 | criteria provided, single submitter | clinical testing |