ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs)

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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 RCV002607868 SCV003512065 pathogenic not provided 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe637Cysfs*55) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with SI-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034781 SCV005664396 likely pathogenic Sucrase-isomaltase deficiency 2024-05-15 criteria provided, single submitter clinical testing

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