ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)

gnomAD frequency: 0.00004  dbSNP: rs779837822
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389585 SCV000386422 uncertain significance Revesz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293081 SCV000386423 uncertain significance Dyskeratosis Congenita, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859877 SCV002177958 uncertain significance Dyskeratosis congenita 2024-04-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 256 of the TINF2 protein (p.Arg256Gln). This variant is present in population databases (rs779837822, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. 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: 312950). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693164 SCV005192277 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005010269 SCV005629727 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 2024-05-31 criteria provided, single submitter clinical testing

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