ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys)

gnomAD frequency: 0.00003  dbSNP: rs200605660
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522338 SCV000618880 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 RCV002481708 SCV002777729 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525164 SCV002999626 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2022-09-27 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 1311 of the TTC21B protein (p.Arg1311Cys). This variant is present in population databases (rs200605660, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. ClinVar contains an entry for this variant (Variation ID: 450312). 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. 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.
Ambry Genetics RCV002525165 SCV003713824 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.3931C>T (p.R1311C) alteration is located in exon 29 (coding exon 29) of the TTC21B gene. This alteration results from a C to T substitution at nucleotide position 3931, causing the arginine (R) at amino acid position 1311 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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