ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2809C>G (p.Pro937Ala)

dbSNP: rs1358741065
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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 RCV002025360 SCV002275821 uncertain significance Developmental and epileptic encephalopathy, 36 2021-02-16 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 937 of the ALG13 protein (p.Pro937Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ALG13-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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