ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr)

gnomAD frequency: 0.00001  dbSNP: rs748792396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344993 SCV001539088 uncertain significance Developmental and epileptic encephalopathy, 36 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 920 of the ALG13 protein (p.Pro920Thr). 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: 1041220). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
GeneDx RCV001572288 SCV001796902 uncertain significance not provided 2020-03-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002547024 SCV003564028 uncertain significance Inborn genetic diseases 2021-05-25 criteria provided, single submitter clinical testing The c.2758C>A (p.P920T) alteration is located in exon 24 (coding exon 24) of the ALG13 gene. This alteration results from a C to A substitution at nucleotide position 2758, causing the proline (P) at amino acid position 920 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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