ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln)

gnomAD frequency: 0.00001  dbSNP: rs987977269
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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 RCV001880596 SCV002126402 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1175 of the TTC21B protein (p.Arg1175Gln). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1357087). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TTC21B protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002489975 SCV002780538 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968361 SCV005523485 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The c.3524G>A (p.R1175Q) alteration is located in exon 26 (coding exon 26) of the TTC21B gene. This alteration results from a G to A substitution at nucleotide position 3524, causing the arginine (R) at amino acid position 1175 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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