ClinVar Miner

Submissions for variant NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs)

dbSNP: rs967166732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778686 SCV000915033 uncertain significance Sucrase-isomaltase deficiency 2018-10-15 criteria provided, single submitter clinical testing The SI c.1911_1912insCTTCT (p.Val638LeufsTer54) variant results in a frameshift and is predicted to result in premature termination of the protein. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital sucrase-isomaltase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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