ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCCTCC (p.Pro945_Ala946insProProProProPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003651237 SCV004433870 uncertain significance Developmental and epileptic encephalopathy, 36 2023-02-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with ALG13-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2798_2799insACCACCACCTCCTCC, results in the insertion of 5 amino acid(s) of the ALG13 protein (p.Pro941_Pro945dup), but otherwise preserves the integrity of the reading frame.

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