ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp)

gnomAD frequency: 0.00001  dbSNP: rs771709910
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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 RCV001959688 SCV002248474 uncertain significance Dyskeratosis congenita 2020-12-13 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. This sequence change replaces alanine with aspartic acid at codon 43 of the TINF2 protein (p.Ala43Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs771709910, ExAC 0.002%). This variant has not been reported in the literature in individuals with TINF2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
GeneDx RCV004770325 SCV005379430 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005008324 SCV005629733 uncertain significance Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 2024-01-07 criteria provided, single submitter clinical testing

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