ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly)

gnomAD frequency: 0.00001  dbSNP: rs753814680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926055 SCV002189949 uncertain significance Dyskeratosis congenita 2021-02-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 56 of the TINF2 protein (p.Arg56Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs753814680, ExAC 0.006%). This variant has not been reported in the literature in individuals with TINF2-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Fulgent Genetics, Fulgent Genetics RCV005006240 SCV005629732 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 2024-03-07 criteria provided, single submitter clinical testing

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