ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2494C>T (p.Arg832Cys)

gnomAD frequency: 0.00001  dbSNP: rs1439121645
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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 RCV001936653 SCV002212370 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 832 of the TTC21B protein (p.Arg832Cys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TTC21B protein function. ClinVar contains an entry for this variant (Variation ID: 1439552). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is not present in population databases (gnomAD no frequency).
PreventionGenetics, part of Exact Sciences RCV004728974 SCV005335592 uncertain significance TTC21B-related disorder 2024-06-07 no assertion criteria provided clinical testing The TTC21B c.2494C>T variant is predicted to result in the amino acid substitution p.Arg832Cys. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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