ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr)

gnomAD frequency: 0.00004  dbSNP: rs1064796719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482872 SCV000573732 uncertain significance not provided 2024-11-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000549460 SCV000652516 uncertain significance Developmental and epileptic encephalopathy, 36 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1044 of the ALG13 protein (p.Ala1044Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ALG13-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 423965). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ALG13 protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV000549460 SCV002784971 uncertain significance Developmental and epileptic encephalopathy, 36 2021-11-09 criteria provided, single submitter clinical testing

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