ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1544G>T (p.Gly515Val)

gnomAD frequency: 0.00019  dbSNP: rs144972103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001146096 SCV001306815 uncertain significance Sucrase-isomaltase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001882448 SCV002167682 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 515 of the SI protein (p.Gly515Val). This variant is present in population databases (rs144972103, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of sucrase-isomaltase deficiency (PMID: 32732636). ClinVar contains an entry for this variant (Variation ID: 900704). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SI protein function. 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 RCV001146096 SCV002776842 uncertain significance Sucrase-isomaltase deficiency 2021-07-19 criteria provided, single submitter clinical testing

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