ClinVar Miner

Submissions for variant NM_001917.5(DAO):c.250G>A (p.Ala84Thr)

gnomAD frequency: 0.00001  dbSNP: rs781658657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UM ALS/MND Lab, University Of Malta RCV001260559 SCV001426206 likely pathogenic Amyotrophic lateral sclerosis 2020-07-31 criteria provided, single submitter case-control
PreventionGenetics, part of Exact Sciences 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.

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