ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser)

gnomAD frequency: 0.00003  dbSNP: rs972892187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650335 SCV000772178 uncertain significance Developmental and epileptic encephalopathy, 36 2022-09-13 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 896 of the ALG13 protein (p.Gly896Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALG13-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV000650335 SCV002781597 uncertain significance Developmental and epileptic encephalopathy, 36 2022-03-01 criteria provided, single submitter clinical testing

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