ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)

gnomAD frequency: 0.00009  dbSNP: rs201787600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063130 SCV001227964 uncertain significance Dyskeratosis congenita 2025-01-02 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 361 of the TINF2 protein (p.Met361Val). This variant is present in population databases (rs201787600, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of TINF2-related conditions (PMID: 37944684). ClinVar contains an entry for this variant (Variation ID: 857461). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252307 SCV002523199 uncertain significance See cases 2019-07-04 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Sema4, Sema4 RCV001063130 SCV002536455 uncertain significance Dyskeratosis congenita 2022-02-07 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003393833 SCV004118912 uncertain significance TINF2-related disorder 2023-03-22 criteria provided, single submitter clinical testing The TINF2 c.1081A>G variant is predicted to result in the amino acid substitution p.Met361Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-24709517-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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