ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)

gnomAD frequency: 0.00001  dbSNP: rs759347694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706664 SCV000835729 uncertain significance Developmental and epileptic encephalopathy, 36 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 1049 of the ALG13 protein (p.Asn1049Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs759347694, ExAC 0.01%). This missense change has been observed in individual(s) with clinical features of ALG13-related disease (Invitae). 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. 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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