ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5C>A (p.Ala2Glu)

gnomAD frequency: 0.00011  dbSNP: rs201612742
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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 RCV001341381 SCV001535252 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2 of the SI protein (p.Ala2Glu). This variant is present in population databases (rs201612742, gnomAD 0.03%). 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: 1038112). 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) has been performed at Invitae 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 RCV002493748 SCV002777649 uncertain significance Sucrase-isomaltase deficiency 2021-10-05 criteria provided, single submitter clinical testing

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