ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu)

dbSNP: rs1047232159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758560 SCV001995528 uncertain significance not provided 2022-03-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477965 SCV002793401 uncertain significance Developmental and epileptic encephalopathy, 36 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002477965 SCV003518882 uncertain significance Developmental and epileptic encephalopathy, 36 2022-02-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1311051). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ALG13-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 923 of the ALG13 protein (p.Pro923Leu).
Breakthrough Genomics, Breakthrough Genomics RCV001758560 SCV005192322 uncertain significance not provided criteria provided, single submitter not provided

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