ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu)

dbSNP: rs1010771919
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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 RCV002000485 SCV002258221 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 962 of the TTC21B protein (p.Met962Leu). This variant is not present in population databases (gnomAD no frequency). 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: 1481180). 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 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 RCV002479652 SCV002789075 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-18 criteria provided, single submitter clinical testing

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