ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.84A>G (p.Lys28=)

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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 RCV003072328 SCV003466965 uncertain significance Developmental and epileptic encephalopathy, 36 2023-06-19 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 2155425). 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 sequence change affects codon 28 of the ALG13 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALG13 protein.

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