ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.437T>G (p.Val146Gly)

gnomAD frequency: 0.00010  dbSNP: rs200916501
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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 RCV001968880 SCV002250789 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 146 of the TTC21B protein (p.Val146Gly). This variant is present in population databases (rs200916501, gnomAD 0.02%). 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: 1468232). 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 with a negative predictive value of 95%. 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 RCV002479612 SCV002785252 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170246 SCV003877433 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.437T>G (p.V146G) alteration is located in exon 5 (coding exon 5) of the TTC21B gene. This alteration results from a T to G substitution at nucleotide position 437, causing the valine (V) at amino acid position 146 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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