ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1943G>A (p.Arg648Lys)

gnomAD frequency: 0.00004  dbSNP: rs375458342
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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 RCV001931898 SCV002123753 uncertain significance not provided 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 648 of the SI protein (p.Arg648Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs375458342, ExAC 0.003%). 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 RCV002482511 SCV002785711 uncertain significance Sucrase-isomaltase deficiency 2021-12-22 criteria provided, single submitter clinical testing

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