ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)

gnomAD frequency: 0.00001  dbSNP: rs201422008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044023 SCV001207796 uncertain significance Dyskeratosis congenita 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 380 of the TINF2 protein (p.Pro380Leu). This variant is present in population databases (rs201422008, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 841738). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV002272393 SCV002558577 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis supports a deleterious effect on splicing
Fulgent Genetics, Fulgent Genetics RCV002479274 SCV002778519 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3 2021-08-19 criteria provided, single submitter clinical testing

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