ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser)

gnomAD frequency: 0.00007  dbSNP: rs773666398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720220 SCV000526002 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing
Invitae RCV001215933 SCV001387702 uncertain significance Developmental and epileptic encephalopathy, 36 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 605 of the ALG13 protein (p.Gly605Ser). This variant is present in population databases (rs773666398, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with ALG13-related conditions. ClinVar contains an entry for this variant (Variation ID: 384926). 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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