ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)

dbSNP: rs1559990351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000723157 SCV002206013 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1289 of the SI protein (p.Gly1289Arg). This variant is not present in population databases (gnomAD no frequency). 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: 591974). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SI protein function with a positive predictive value of 95%. 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 RCV002493304 SCV002799641 uncertain significance Sucrase-isomaltase deficiency 2022-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000723157 SCV005690199 uncertain significance not provided 2024-08-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Gharavi Laboratory, Columbia University RCV000723157 SCV000854288 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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