ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly)

gnomAD frequency: 0.00001  dbSNP: rs895624584
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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 RCV001235696 SCV001408397 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2019-08-08 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 arginine with glycine at codon 858 of the TTC21B protein (p.Arg858Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTC21B-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Fulgent Genetics, Fulgent Genetics RCV005029811 SCV005651244 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-02-20 criteria provided, single submitter clinical testing

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