ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1399-402_1513-1189dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420598 SCV001622915 uncertain significance Sucrase-isomaltase deficiency 2020-05-05 criteria provided, single submitter clinical testing The inherited c.1399-402_1513-1189dup variant identified in the SI gene is a 4.65KB tandem duplication of exon 13 and surrounding intronic sequences. This is predicted to lead to the in-frame insertion of 38 amino acids within the isomaltase domain of SI (UniProtKB:P14410), in which other variants have been reported in affected individuals [PMID:19121318]. A similar duplication of exon 13 has been observed a single time in gnomAD (1 heterozygote, 0 homozygotes; allele frequency:4.6e-5; gnomAD v2.1.1), suggesting it is not a common benign variant in the populations represented in this database. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.1399-402_1513-1189dup variant identified in the SI gene is reported here as a Variant of Uncertain Significance.

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