Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UM ALS/MND Lab, |
RCV001260559 | SCV001426206 | likely pathogenic | Amyotrophic lateral sclerosis | 2020-07-31 | criteria provided, single submitter | case-control | |
Prevention |
RCV003399030 | SCV004105252 | uncertain significance | DAO-related condition | 2022-12-13 | criteria provided, single submitter | clinical testing | The DAO c.250G>A variant is predicted to result in the amino acid substitution p.Ala84Thr. This variant was reported in two Malta individuals with amyotrophic lateral sclerosis (Table2, Wismayer et al. 2022. PubMed ID: 36549973). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-109281281-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |