Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000794450 | SCV000933860 | uncertain significance | Alstrom syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 9 of the ALMS1 protein (p.Pro9Ser). This variant is present in population databases (rs769538172, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 641250). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002424808 | SCV002743029 | uncertain significance | Cardiovascular phenotype | 2022-06-21 | criteria provided, single submitter | clinical testing | The p.P9S variant (also known as c.25C>T), located in coding exon 1 of the ALMS1 gene, results from a C to T substitution at nucleotide position 25. The proline at codon 9 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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. |
| Fulgent Genetics, |
RCV000794450 | SCV002815193 | uncertain significance | Alstrom syndrome | 2022-03-09 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000794450 | SCV001463494 | uncertain significance | Alstrom syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |