ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 2023-06-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 437006). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. This variant is present in population databases (rs746287594, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 211 of the TINF2 protein (p.Leu211Val).

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