ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1670T>C (p.Met557Thr)

gnomAD frequency: 0.00002  dbSNP: rs1255485671
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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 RCV001984000 SCV002286651 uncertain significance Developmental and epileptic encephalopathy, 36 2022-07-05 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1492956). This variant has not been reported in the literature in individuals affected with ALG13-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 557 of the ALG13 protein (p.Met557Thr).

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