ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)

gnomAD frequency: 0.00003  dbSNP: rs779805310
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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 RCV001933894 SCV002200060 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1343 of the SI protein (p.Ile1343Thr). This variant is present in population databases (rs779805310, gnomAD 0.007%). 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: 1427811). 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 RCV002479465 SCV002790978 uncertain significance Sucrase-isomaltase deficiency 2022-03-04 criteria provided, single submitter clinical testing

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