ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del)

dbSNP: rs770600982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349978 SCV001544348 uncertain significance Developmental and epileptic encephalopathy, 36 2022-08-23 criteria provided, single submitter clinical testing This variant, c.3029_3031del, results in the deletion of 1 amino acid(s) of the ALG13 protein (p.Gln1010del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770600982, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with ALG13-related conditions. 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.
CeGaT Center for Human Genetics Tuebingen RCV004546638 SCV005042080 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing ALG13: PM4:Supporting
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004546638 SCV005198480 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing

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