Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560316 | SCV000631798 | uncertain significance | Alstrom syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159777 | SCV003857317 | uncertain significance | Cardiovascular phenotype | 2023-03-03 | criteria provided, single submitter | clinical testing | The p.R2390S variant (also known as c.7170G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 7170. The arginine at codon 2390 is replaced by serine, an amino acid with dissimilar 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. |