Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600292 | SCV000731529 | likely benign | not specified | 2017-02-22 | criteria provided, single submitter | clinical testing | c.874+13T>C in intron 7 of VCL: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It h as been identified in 3/11416 Latino chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs777617736). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000600292 | SCV001623234 | benign | not specified | 2021-05-10 | criteria provided, single submitter | clinical testing | Variant summary: VCL c.874+13T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 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 4e-05 in 251016 control chromosomes. The observed variant frequency is slightly higher than the estimated maximal expected allele frequency for a pathogenic variant in VCL causing Cardiomyopathy phenotype (2.5e-05), suggesting that the variant may be benign. To our knowledge, no occurrence of c.874+13T>C in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has 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. |
Invitae | RCV002060629 | SCV002364407 | likely benign | Dilated cardiomyopathy 1W | 2024-01-25 | criteria provided, single submitter | clinical testing |