ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)

dbSNP: rs150702232
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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 RCV001973325 SCV002256197 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1654 of the SI protein (p.Ala1654Gly). This variant is present in population databases (rs150702232, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1470670). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002492182 SCV002783172 uncertain significance Sucrase-isomaltase deficiency 2022-01-03 criteria provided, single submitter clinical testing

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