ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)

gnomAD frequency: 0.00006  dbSNP: rs201677741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000400895 SCV000330201 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 28125078, 31589614)
Invitae RCV000634505 SCV000755821 uncertain significance Dyskeratosis congenita 2022-09-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 280299). This variant has not been reported in the literature in individuals affected with TINF2-related conditions. This variant is present in population databases (rs201677741, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This sequence change creates a premature translational stop signal (p.Tyr312*) in the TINF2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TINF2 cause disease.
Fulgent Genetics, Fulgent Genetics RCV002487176 SCV002780797 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3 2021-11-04 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824719 SCV002075251 not provided Hoyeraal-Hreidarsson syndrome; Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 no assertion provided phenotyping only Variant classified as Pathogenic and reported on 03-13-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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