ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1420T>C (p.Tyr474His)

gnomAD frequency: 0.00005  dbSNP: rs771986263
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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 RCV002040632 SCV002302983 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing 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 sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 474 of the SI protein (p.Tyr474His). This variant is present in population databases (rs771986263, gnomAD 0.02%). 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.
Fulgent Genetics, Fulgent Genetics RCV002498039 SCV002807018 uncertain significance Sucrase-isomaltase deficiency 2022-03-05 criteria provided, single submitter clinical testing

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