Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV001172508 | SCV001335561 | uncertain significance | Monogenic diabetes | 2018-07-27 | criteria provided, single submitter | research | ACMG criteria: PM2, BP1 (missense in gene with truncating known), (REVEL score 0.242 + 9 BP4 predictors= conflicting evidence, not using)= VUS |
Ambry Genetics | RCV002375050 | SCV002683813 | uncertain significance | Cardiovascular phenotype | 2021-02-10 | criteria provided, single submitter | clinical testing | The p.P300S variant (also known as c.898C>T), located in coding exon 5 of the ALMS1 gene, results from a C to T substitution at nucleotide position 898. The proline at codon 300 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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. |