Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666506 | SCV000790811 | uncertain significance | Alstrom syndrome | 2017-04-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002386145 | SCV002691228 | uncertain significance | Cardiovascular phenotype | 2022-09-16 | criteria provided, single submitter | clinical testing | The p.P3290L variant (also known as c.9869C>T), located in coding exon 12 of the ALMS1 gene, results from a C to T substitution at nucleotide position 9869. The proline at codon 3290 is replaced by leucine, an amino acid with similar properties. This amino acid position is poorly 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. |
| Invitae | RCV000666506 | SCV003010602 | uncertain significance | Alstrom syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3290 of the ALMS1 protein (p.Pro3290Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 551443). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |