Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604961 | SCV000713732 | likely benign | not specified | 2017-11-22 | criteria provided, single submitter | clinical testing | p.Met2707Val in exon 10 of ALMS1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 6 mammals have a valine (Val) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identified in 1/11168 6 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs371904071). ACMG/AMP Criteria applied: BP4_Strong. |