ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3064G>A (p.Val1022Met)

dbSNP: rs201018248
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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 RCV001912260 SCV002147079 uncertain significance not provided 2021-08-25 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1022 of the SI protein (p.Val1022Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs201018248, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SI-related conditions. 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. 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 RCV002482611 SCV002786462 uncertain significance Sucrase-isomaltase deficiency 2022-03-03 criteria provided, single submitter clinical testing

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