ClinVar Miner

Submissions for variant NM_001367943.1(TCF7L2):c.480T>G (p.Asp160Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004577656 SCV005061486 uncertain significance Type 2 diabetes mellitus 2024-06-15 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 5 of the TCF7L2 gene that results in the amino acid substitution of Glutamic acid for Aspartic acid at codon 160 was detected. The observed variant c.480T>G (p.Asp160Glu) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and SIFT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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