ClinVar Miner

Submissions for variant NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) (rs200206252)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000312958 SCV000437934 uncertain significance Congenital glucose-galactose malabsorption 2017-04-27 criteria provided, single submitter clinical testing The SLC5A1 c.1230C>G (p.Tyr410Ter) variant is a stop-gained variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Tyr410Ter variant is reported at a frequency of 0.00001 in the European (non-Finnish) population of the Exome Aggregation Consortium, but this frequency is based on one allele only in a region of good sequence coverage so it is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for glucose-galactose malabsorption. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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