Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470893 | SCV000553364 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000470893 | SCV002005216 | uncertain significance | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002349981 | SCV002651005 | uncertain significance | Inborn genetic diseases | 2019-04-03 | criteria provided, single submitter | clinical testing | The p.A1832S variant (also known as c.5494G>T), located in coding exon 39 of the SZT2 gene, results from a G to T substitution at nucleotide position 5494. The alanine at codon 1832 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003970291 | SCV004781342 | likely benign | SZT2-related condition | 2022-02-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |