ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)

gnomAD frequency: 0.00002  dbSNP: rs121912611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512643 SCV003525470 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1098 of the SI protein (p.Gln1098Pro). This variant is present in population databases (rs121912611, gnomAD 0.004%). 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: 1412). 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 expected to disrupt SI protein function. Experimental studies have shown that this missense change affects SI function (PMID: 8609217, 9092938, 12624106, 15944403). 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.
OMIM RCV000001477 SCV000021632 pathogenic Sucrase-isomaltase deficiency 1996-02-01 no assertion criteria provided literature only

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