ClinVar Miner

Submissions for variant NM_183381.3(RNF13):c.929del (p.Pro310fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283964 SCV002573232 uncertain significance Developmental and epileptic encephalopathy, 73 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. However, loss-of-function of the RNF13 gene is not a fully established disease causing mechanism at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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