Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705117 | SCV000250675 | uncertain significance | not provided | 2020-03-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213689; Landrum et al., 2016) |
Invitae | RCV000542904 | SCV000637273 | likely benign | Shprintzen-Goldberg syndrome | 2023-05-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000542904 | SCV000894749 | uncertain significance | Shprintzen-Goldberg syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372648 | SCV004094434 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-27 | criteria provided, single submitter | clinical testing | The p.R357Q variant (also known as c.1070G>A), located in coding exon 2 of the SKI gene, results from a G to A substitution at nucleotide position 1070. The arginine at codon 357 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a whole exome sequencing cohort in an individual with developmental delays and multiple congenital anomalies (Baldridge D et al. Genet Med, 2017 Sep;19:1040-1048). This amino acid position is well 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. |