ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2654_2657del (p.Asp885fs)

dbSNP: rs1221816681
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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 RCV000723105 SCV002197700 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp885Valfs*14) 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).
Fulgent Genetics, Fulgent Genetics RCV002499337 SCV002810369 likely pathogenic Sucrase-isomaltase deficiency 2022-05-24 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723105 SCV000854236 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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