ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg)

dbSNP: rs770995315
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981793 SCV002225108 uncertain significance Dyskeratosis congenita 2021-02-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with TINF2-related conditions. This sequence change replaces proline with arginine at codon 142 of the TINF2 protein (p.Pro142Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency).

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