Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003225171 | SCV003921655 | uncertain significance | not provided | 2022-10-26 | 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 | RCV003294174 | SCV003996423 | uncertain significance | Cardiovascular phenotype | 2023-06-05 | criteria provided, single submitter | clinical testing | The p.S763T variant (also known as c.2288G>C), located in coding exon 8 of the ALMS1 gene, results from a G to C substitution at nucleotide position 2288. The serine at codon 763 is replaced by threonine, 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. |
Natera, |
RCV001277428 | SCV001464377 | likely benign | Alstrom syndrome | 2020-04-29 | no assertion criteria provided | clinical testing |