Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674835 | SCV000800236 | uncertain significance | Alstrom syndrome | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352097 | SCV002623446 | uncertain significance | Cardiovascular phenotype | 2022-04-07 | criteria provided, single submitter | clinical testing | The c.3818_3820delTTG variant (also known as p.V1273del) is located in coding exon 8 of the ALMS1 gene. This variant results from an in-frame TTG deletion at nucleotide positions 3818 to 3820. This results in the in-frame deletion of a valine residue at codon 1273. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |