ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly)

dbSNP: rs374740382
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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 RCV001822337 SCV002064787 uncertain significance not specified 2020-09-22 criteria provided, single submitter clinical testing DNA sequence analysis of the TINF2 gene demonstrated a sequence change, c.1093A>G, in exon 7 that results in an amino acid change, p.Arg365Gly. This sequence change does not appear to have been previously described in patients with TINF2-related disorders and has been described in the gnomAD database in one individual with an overall population frequency of 0.0004% (dbSNP rs374740382). The p.Arg365Gly change affects a highly conserved amino acid residue located in a domain of the TINF2 protein that is not known to be functional. The p.Arg365Gly substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg365Gly change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869744 SCV002160540 uncertain significance Dyskeratosis congenita 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 365 of the TINF2 protein (p.Arg365Gly). This variant is present in population databases (rs374740382, gnomAD 0.0009%). 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: 1337739). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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