ClinVar Miner

Submissions for variant NM_001041.4(SI):c.4094dup (p.Phe1366fs)

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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 RCV003709984 SCV004475403 pathogenic not provided 2023-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe1366Leufs*19) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SI-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005030209 SCV005662222 likely pathogenic Sucrase-isomaltase deficiency 2024-01-18 criteria provided, single submitter clinical testing

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