ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)

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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 RCV003041184 SCV003442119 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 701 of the TTC21B protein (p.His701Asp). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 2137475). 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 RCV005019586 SCV005651262 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536547 SCV004713890 uncertain significance TTC21B-related disorder 2024-01-02 no assertion criteria provided clinical testing The TTC21B c.2101C>G variant is predicted to result in the amino acid substitution p.His701Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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