Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172501 | SCV000051351 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000152644 | SCV000201980 | uncertain significance | not specified | 2014-01-24 | criteria provided, single submitter | clinical testing | The Gly400Cys variant in VCL has not been reported in individuals with cardiomyo pathy, but has been identified in 1/1324 European chromosomes by the ClinSeq pro ject (dbSNP rs201361282). Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, and SIFT) do not provide strong support for or aga inst an impact to the protein. Additional information is needed to fully assess the clinical significance of the Gly400Cys variant. |
Invitae | RCV001053034 | SCV001217276 | uncertain significance | Dilated cardiomyopathy 1W | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172501 | SCV001990810 | uncertain significance | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 166542; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002345484 | SCV002643025 | uncertain significance | Cardiovascular phenotype | 2021-05-13 | criteria provided, single submitter | clinical testing | The p.G400C variant (also known as c.1198G>T), located in coding exon 10 of the VCL gene, results from a G to T substitution at nucleotide position 1198. The glycine at codon 400 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort; however, clinical details are limited (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |