ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2798A>G (p.Gln933Arg)

gnomAD frequency: 0.00001  dbSNP: rs773762538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005036589 SCV005664355 uncertain significance Sucrase-isomaltase deficiency 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002907099 SCV003665965 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.2798A>G (p.Q933R) alteration is located in exon 25 (coding exon 24) of the SI gene. This alteration results from a A to G substitution at nucleotide position 2798, causing the glutamine (Q) at amino acid position 933 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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