ClinVar Miner

Submissions for variant NM_001041.4(SI):c.788G>A (p.Arg263Gln)

gnomAD frequency: 0.00002  dbSNP: rs143135955
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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 RCV001925896 SCV002180054 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 263 of the SI protein (p.Arg263Gln). This variant is present in population databases (rs143135955, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1413379). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SI 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.
Fulgent Genetics, Fulgent Genetics RCV002507031 SCV002816034 uncertain significance Sucrase-isomaltase deficiency 2022-03-18 criteria provided, single submitter clinical testing

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