ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val)

gnomAD frequency: 0.00001  dbSNP: rs532096263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634480 SCV000755796 uncertain significance Dyskeratosis congenita 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 446 of the TINF2 protein (p.Asp446Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs532096263, ExAC 0.02%). This variant has not been reported in the literature in individuals with TINF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV004731000 SCV005336758 uncertain significance TINF2-related disorder 2024-04-17 no assertion criteria provided clinical testing The TINF2 c.1337A>T variant is predicted to result in the amino acid substitution p.Asp446Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. 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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