ClinVar Miner

Submissions for variant NM_001041.4(SI):c.3521-1G>T

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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 RCV003666201 SCV004377265 likely pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 29 of the SI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SI are known to be pathogenic (PMID: 16329100, 23103650, 25452324). This variant is present in population databases (rs757893762, gnomAD 0.002%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SI-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005036911 SCV005662255 likely pathogenic Sucrase-isomaltase deficiency 2023-12-28 criteria provided, single submitter clinical testing

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