ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)

gnomAD frequency: 0.00014  dbSNP: rs142090504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885190 SCV002237110 pathogenic not provided 2024-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1417*) in the SI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SI are known to be pathogenic (PMID: 16329100, 23103650, 25452324). This variant is present in population databases (rs142090504, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with irritable bowel syndrome (PMID: 29408290). ClinVar contains an entry for this variant (Variation ID: 1325070). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001885190 SCV002562614 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing Reported in an individuals with irritable bowel syndrome, although this variant was also present in controls (Garcia-Etxebarria et al., 2018; Zheng et al., 2021); 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; This variant is associated with the following publications: (PMID: 34186061, 32732636, 29408290, 33375084)
Fulgent Genetics, Fulgent Genetics RCV001783747 SCV002810433 likely pathogenic Sucrase-isomaltase deficiency 2023-12-21 criteria provided, single submitter clinical testing

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