ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) (rs746287594)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000499416 SCV000597495 uncertain significance not specified 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV001209663 SCV001381109 uncertain significance Dyskeratosis congenita 2019-06-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 211 of the TINF2 protein (p.Leu211Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs746287594, ExAC 0.003%). This variant has not been reported in the literature in individuals with TINF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 437006). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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