ClinVar Miner

Submissions for variant NM_001041.4(SI):c.417T>G (p.Phe139Leu)

gnomAD frequency: 0.00003  dbSNP: rs758407768
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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 RCV001997880 SCV002249963 uncertain significance not provided 2022-06-13 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. 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. This variant has not been reported in the literature in individuals affected with SI-related conditions. This variant is present in population databases (rs758407768, gnomAD 0.005%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 139 of the SI protein (p.Phe139Leu).
Fulgent Genetics, Fulgent Genetics RCV002484827 SCV002789852 uncertain significance Sucrase-isomaltase deficiency 2024-02-22 criteria provided, single submitter clinical testing

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