ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5198-20dup

dbSNP: rs566002300
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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 RCV001512386 SCV001719795 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495788 SCV002798866 benign Sucrase-isomaltase deficiency 2021-07-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987871 SCV004803247 benign not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: SI c.5198-13dupT alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0025 in 243652 control chromosomes in the gnomAD database, including 2 homozygotes. To our knowledge, no occurrence of c.5198-13dupT in individuals affected with Sucrase-Isomaltase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1165342, Benign). Based on the evidence outlined above, the variant was classified as benign.

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