Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672541 | SCV000797654 | likely pathogenic | Alstrom syndrome | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388181 | SCV002699285 | likely pathogenic | Cardiovascular phenotype | 2020-08-11 | criteria provided, single submitter | clinical testing | The c.1435+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 7 of the ALMS1 gene. This nucleotide position is highly conserved in available vertebrate species. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |