ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)

dbSNP: rs760505676
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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 RCV002015282 SCV002281676 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with SI-related conditions. This variant is present in population databases (rs760505676, ExAC 0.001%). This sequence change replaces arginine with tryptophan at codon 1655 of the SI protein (p.Arg1655Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Fulgent Genetics, Fulgent Genetics RCV002486593 SCV002782564 uncertain significance Sucrase-isomaltase deficiency 2021-08-19 criteria provided, single submitter clinical testing

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