ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1217A>C (p.Asn406Thr)

gnomAD frequency: 0.00001  dbSNP: rs777261367
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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 RCV002020748 SCV002305124 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 406 of the SI protein (p.Asn406Thr). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 not 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 RCV002498046 SCV002816105 uncertain significance Sucrase-isomaltase deficiency 2021-09-06 criteria provided, single submitter clinical testing

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