ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu)

gnomAD frequency: 0.00001  dbSNP: rs1364102879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040487 SCV001204063 uncertain significance Developmental and epileptic encephalopathy, 36 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 554 of the ALG13 protein (p.Trp554Leu). 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 (Invitae). ClinVar contains an entry for this variant (Variation ID: 838854). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ALG13 protein function with a negative predictive value of 80%. 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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