ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.161T>C (p.Leu54Pro)

dbSNP: rs2152167069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251007 SCV002521329 uncertain significance Developmental and epileptic encephalopathy, 29 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. It is in trans with the NM_001605.3:c.241A>G variant (3billion dataset). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.88; 3Cnet: 0.88). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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