Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318636 | SCV000849881 | uncertain significance | Inborn genetic diseases | 2017-05-31 | criteria provided, single submitter | clinical testing | The p.T1532P variant (also known as c.4594A>C), located in coding exon 31 of the SZT2 gene, results from an A to C substitution at nucleotide position 4594. The threonine at codon 1532 is replaced by proline, an amino acid with highly similar properties. 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. |