ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)

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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 RCV002727279 SCV003005776 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-02-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1056 of the TTC21B protein (p.Gly1056Asp). This variant is present in population databases (rs746423189, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481329 SCV004224978 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019351 SCV005651219 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-05-01 criteria provided, single submitter clinical testing

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