ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys)

gnomAD frequency: 0.00013  dbSNP: rs367783946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712284 SCV000530895 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001345093 SCV001539192 uncertain significance Developmental and epileptic encephalopathy, 36 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 438 of the ALG13 protein (p.Thr438Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 388563). 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. 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.
Ambry Genetics RCV002522447 SCV003757378 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.1313C>A (p.T438K) alteration is located in exon 11 (coding exon 11) of the ALG13 gene. This alteration results from a C to A substitution at nucleotide position 1313, causing the threonine (T) at amino acid position 438 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001712284 SCV004167455 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ALG13: BP4

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