ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr)

gnomAD frequency: 0.00001  dbSNP: rs368350757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985024 SCV002222300 uncertain significance Dyskeratosis congenita 2024-09-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 359 of the TINF2 protein (p.Cys359Tyr). This variant is present in population databases (rs368350757, gnomAD 0.01%). 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: 1445405). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The tyrosine 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.
Fulgent Genetics, Fulgent Genetics RCV005006292 SCV005629720 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 2024-01-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005232732 SCV005872822 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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