ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2028dup (p.Gln677fs)

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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 RCV002771076 SCV003033291 pathogenic not provided 2024-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln677Alafs*7) 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 (rs751534972, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1987170). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034422 SCV005664389 likely pathogenic Sucrase-isomaltase deficiency 2024-04-26 criteria provided, single submitter clinical testing

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