ClinVar Miner

Submissions for variant NM_001041.4(SI):c.853G>T (p.Glu285Ter)

dbSNP: rs758259365
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579290 SCV000680973 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614, 34926337)
Revvity Omics, Revvity RCV003129929 SCV003808215 likely pathogenic Sucrase-isomaltase deficiency 2022-08-09 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003129929 SCV004806921 pathogenic Sucrase-isomaltase deficiency 2024-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003129929 SCV005664453 likely pathogenic Sucrase-isomaltase deficiency 2024-03-27 criteria provided, single submitter clinical testing

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