ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1303C>T (p.Arg435Cys)

gnomAD frequency: 0.00002  dbSNP: rs370325800
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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 RCV002046307 SCV002314951 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 435 of the SI protein (p.Arg435Cys). This variant is present in population databases (rs370325800, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002479817 SCV002775343 uncertain significance Sucrase-isomaltase deficiency 2022-04-22 criteria provided, single submitter clinical testing

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