ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys)

gnomAD frequency: 0.00004  dbSNP: rs370846838
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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 RCV001932807 SCV002173265 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-07-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1400722). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is present in population databases (rs370846838, gnomAD 0.007%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 687 of the TTC21B protein (p.Phe687Cys). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.
Fulgent Genetics, Fulgent Genetics RCV002490198 SCV002789086 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734326 SCV005349519 uncertain significance TTC21B-related disorder 2024-09-04 no assertion criteria provided clinical testing The TTC21B c.2060T>G variant is predicted to result in the amino acid substitution p.Phe687Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African 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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