ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro)

gnomAD frequency: 0.00001  dbSNP: rs781652731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007021 SCV002293959 uncertain significance Developmental and epileptic encephalopathy, 36 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 832 of the ALG13 protein (p.Gln832Pro). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1506833). This variant has not been reported in the literature in individuals affected with ALG13-related conditions. This variant is present in population databases (rs781652731, gnomAD 0.008%).
Revvity Omics, Revvity RCV002007021 SCV003826160 uncertain significance Developmental and epileptic encephalopathy, 36 2022-02-03 criteria provided, single submitter clinical testing

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