Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317600 | SCV000851160 | uncertain significance | Inborn genetic diseases | 2017-12-27 | criteria provided, single submitter | clinical testing | The p.R2435W variant (also known as c.7303C>T), located in coding exon 52 of the SZT2 gene, results from a C to T substitution at nucleotide position 7303. The arginine at codon 2435 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been described in an individual with early onset epileptic encephalopathy who was compound heterozygous for another missense alteration (Tshuchida N et al. Clin. Genet., 2017 May; epub ahead of print). 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. |
Invitae | RCV000981751 | SCV001129747 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000981751 | SCV002504457 | likely benign | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Revvity Omics, |
RCV001292588 | SCV003818883 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2022-01-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001292588 | SCV001481161 | pathogenic | Developmental and epileptic encephalopathy, 18 | 2021-02-19 | no assertion criteria provided | literature only |